What is a metabolic disorder

A metabolic disorder occurs when abnormal chemical reactions in your body disrupt your body’s metabolism. Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body’s fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat.

In a much broader sense, a metabolic disorder is any disease that is caused by an abnormal chemical reaction in your body’s cells. Most metabolic disorders involve either abnormal levels of enzymes or hormones, or problems with how those enzymes or hormones work.

If you have a metabolic disorder, the metabolism of your body chemicals is blocked or defective, it can cause a buildup of toxic substances in the body or a lack of substances needed for normal body function, either of which can lead to serious symptoms.

There are different groups of metabolic disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group like the mitochondrial diseases, affect the parts of the cells that produce the energy.

You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.

Is diabetes a metabolic disorder?

Yes.

Metabolic disorders list

Some metabolic disorders are inherited. These are called inborn errors of metabolism. When babies are born, they’re tested for many of these in a newborn screening test. Many inborn errors of metabolism can lead to serious complications or even death if they’re not controlled with diet or medicine from an early age.

• 17-alpha-hydroxylase deficiency
• 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 18 Hydroxylase deficiency
• 2-Hydroxyglutaric aciduria
• 2-methyl-3-hydroxybutyric aciduria
• 2-methylbutyryl-CoA dehydrogenase deficiency
• 3 Methylcrotonyl-CoA carboxylase 1 deficiency
• 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
• 3-Hydroxyisobutyric aciduria
• 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 5-oxoprolinase deficiency
• 6-pyruvoyl-tetrahydropterin synthase deficiency
• Abdominal obesity metabolic syndrome
• Abetalipoproteinemia
• Acatalasemia
• Aceruloplasminemia
• Acetyl CoA acetyltransferase 2 deficiency
• Acetyl-carnitine deficiency
• Acrodermatitis enteropathica
• Acromegaly
• Acute intermittent porphyria
• Adenine phosphoribosyltransferase deficiency
• Adenosine deaminase deficiency
• Adenosine monophosphate deaminase 1 deficiency
• Adenylosuccinase deficiency
• Adrenomyeloneuropathy
• Adult polyglucosan body disease
• Adult-onset citrullinemia type II
• Albinism deafness syndrome
• Albinism ocular late onset sensorineural deafness
• ALG1-CDG (CDG-Ik)
• ALG11-CDG (CDG-Ip)
• ALG12-CDG (CDG-Ig)
• ALG13-CDG
• ALG2-CDG (CDG-Ii)
• ALG3-CDG (CDG-Id)
• ALG6-CDG (CDG-Ic)
• ALG8-CDG (CDG-Ih)
• ALG9-CDG (CDG-IL)
• Alkaptonuria
• Alpers syndrome
• Alpha-1 antitrypsin deficiency
• Alpha-ketoglutarate dehydrogenase deficiency
• Alpha-mannosidosis
• Aminoacylase 1 deficiency
• Anemia due to Adenosine triphosphatase deficiency
• Anemia sideroblastic and spinocerebellar ataxia
• Apparent mineralocorticoid excess
• Arginase deficiency
• Argininosuccinic aciduria
• Aromatic L-amino acid decarboxylase deficiency
• Arthrogryposis renal dysfunction cholestasis syndrome
• Arts syndrome
• Aspartylglycosaminuria
• Ataxia with oculomotor apraxia type 1
• Ataxia with vitamin E deficiency
• Atransferrinemia
• Atypical Gaucher disease due to saposin C deficiency
• Autoimmune polyglandular syndrome type 2
• Autosomal dominant neuronal ceroid lipofuscinosis 4B
• Autosomal dominant optic atrophy and cataract
• Autosomal dominant optic atrophy plus syndrome
• Autosomal recessive neuronal ceroid lipofuscinosis 4A
• Autosomal recessive spastic ataxia 4
• Autosomal recessive spinocerebellar ataxia 9
• B4GALT1-CDG (CDG-IId)
• Bantu siderosis
• Barth syndrome
• Bartter syndrome
• Bartter syndrome antenatal type 1
• Bartter syndrome antenatal type 2
• Bartter syndrome type 3
• Bartter syndrome type 4
• Beta ketothiolase deficiency
• Biotin-thiamine-responsive basal ganglia disease
• Biotinidase deficiency
• Bjornstad syndrome
• Blue diaper syndrome
• Carbamoyl phosphate synthetase 1 deficiency
• Carnitine palmitoyl transferase 1 deficiency
• Carnitine palmitoyltransferase I deficiency , muscle
• Carnitine-acylcarnitine translocase deficiency
• Carnosinemia
• Central diabetes insipidus
• Cerebral folate deficiency
• Cerebrotendinous xanthomatosis
• Ceroid lipofuscinosis neuronal 1
• Chanarin-Dorfman syndrome
• Chediak-Higashi syndrome
• CHILD syndrome
• Childhood hypophosphatasia
• Childhood-onset cerebral X-linked adrenoleukodystrophy
• Cholesteryl ester storage disease
• Chondrocalcinosis 1
• Chondrocalcinosis 2
• Chondrocalcinosis due to apatite crystal deposition
• Chondrodysplasia punctata 1, X-linked recessive
• Chronic progressive external ophthalmoplegia
• Chylomicron retention disease
• Citrulline transport defect
• COG1-CDG (CDG-IIg)
• COG4-CDG (CDG-IIj)
• COG5-CDG (CDG-IIi)
• COG7-CDG (CDG-IIe)
• COG8-CDG (CDG-IIh)
• Combined oxidative phosphorylation deficiency 16
• Congenital bile acid synthesis defect, type 1
• Congenital bile acid synthesis defect, type 2
• Congenital disorder of glycosylation type I/IIX
• Congenital dyserythropoietic anemia type 2
• Congenital erythropoietic porphyria
• Congenital lactase deficiency
• Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)
• Copper deficiency, familial benign
• CoQ-responsive OXPHOS deficiency
• Crigler Najjar syndrome, type 1
• Crigler-Najjar syndrome type 2
• Cystinosis
• Cystinosis, ocular nonnephropathic
• Cytochrome c oxidase deficiency
• D-2-hydroxyglutaric aciduria
• D-bifunctional protein deficiency
• D-glycericacidemia
• Danon disease
• DCMA syndrome
• DDOST-CDG (CDG-Ir)
• Deafness, dystonia, and cerebral hypomyelination
• Dentatorubral-pallidoluysian atrophy
• Desmosterolosis
• Diamond-Blackfan anemia
• Dicarboxylic aminoaciduria
• Dihydrolipoamide dehydrogenase deficiency
• Dihydropteridine reductase deficiency
• Dihydropyrimidinase deficiency
• Dihydropyrimidine dehydrogenase deficiency
• Dipsogenic diabetes insipidus
• DOLK-CDG (CDG-Im)
• Dopa-responsive dystonia
• Dopamine beta hydroxylase deficiency
• Dowling-Degos disease
• DPAGT1-CDG (CDG-Ij)
• DPM1-CDG (CDG-Ie)
• DPM2-CDG
• DPM3-CDG (CDG-Io)
• Dubin-Johnson syndrome
• Encephalopathy due to prosaposin deficiency
• Erythropoietic protoporphyria
• Erythropoietic uroporphyria associated with myeloid malignancy
• Ethylmalonic encephalopathy
• Fabry disease
• Familial HDL deficiency
• Familial hypocalciuric hypercalcemia type 1
• Familial hypocalciuric hypercalcemia type 2
• Familial hypocalciuric hypercalcemia type 3
• Familial LCAT deficiency
• Familial partial lipodystrophy type 2
• Fanconi Bickel syndrome
• Farber’s disease
• Fatal infantile encephalomyopathy
• Fatty acid hydroxylase-associated neurodegeneration
• Fish-eye disease
• Fructose-1,6-bisphosphatase deficiency
• Fucosidosis
• Fukuyama type muscular dystrophy
• Fumarase deficiency
• Galactokinase deficiency
• Galactosialidosis
• Gamma aminobutyric acid transaminase deficiency
• Gamma-cystathionase deficiency
• Gaucher disease
• Gaucher disease – ophthalmoplegia – cardiovascular calcification
• Gaucher disease perinatal lethal
• Gaucher disease type 1
• Gaucher disease type 2
• Gaucher disease type 3
• Gestational diabetes insipidus
• Gilbert syndrome – Not a rare disease
• Gitelman syndrome
• Glucose transporter type 1 deficiency syndrome
• Glucose-galactose malabsorption
• Glutamate formiminotransferase deficiency
• Glutamine deficiency, congenital
• Glutaric acidemia type I
• Glutaric acidemia type II
• Glutaric acidemia type III
• Glutathione synthetase deficiency
• Glutathionuria
• Glycine N-methyltransferase deficiency
• Glycogen storage disease 8
• Glycogen storage disease type 0, liver
• Glycogen storage disease type 12
• Glycogen storage disease type 13
• Glycogen storage disease type 1A
• Glycogen storage disease type 1B
• Glycogen storage disease type 3
• Glycogen storage disease type 5
• Glycogen storage disease type 6
• Glycogen storage disease type 7
• Glycoproteinosis
• GM1 gangliosidosis type 1
• GM1 gangliosidosis type 2
• GM1 gangliosidosis type 3
• GM3 synthase deficiency
• GRACILE syndrome
• Greenberg dysplasia
• GTP cyclohydrolase I deficiency
• Guanidinoacetate methyltransferase deficiency
• Gyrate atrophy of choroid and retina
• Haim-Munk syndrome
• Hartnup disease
• Hawkinsinuria
• Hemochromatosis type 2
• Hemochromatosis type 3
• Hemochromatosis type 4
• Hepatic lipase deficiency
• Hepatoerythropoietic porphyria
• Hereditary amyloidosis
• Hereditary coproporphyria
• Hereditary folate malabsorption
• Hereditary fructose intolerance
• Hereditary hyperekplexia
• Hereditary multiple osteochondromas
• Hereditary orotic aciduria without megaloblastic anaemia
• Hereditary sensory and autonomic neuropathy type 1E
• Hereditary sensory neuropathy type 1
• Hermansky Pudlak syndrome 2
• Histidinemia
• HMG CoA lyase deficiency
• Homocarnosinosis
• Homocysteinemia
• Homocystinuria due to CBS deficiency
• Homocystinuria due to MTHFR deficiency
• Hurler syndrome
• Hurler–Scheie syndrome
• Hydroxykynureninuria
• Hyper-IgD syndrome
• Hyperbetaalaninemia
• Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• Hyperglycerolemia
• Hyperinsulinism due to glucokinase deficiency
• Hyperinsulinism-hyperammonemia syndrome
• Hyperlipidemia type 3
• Hyperlipoproteinemia type 5
• Hyperlysinemia
• Hyperphenylalaninemia due to dehydratase deficiency
• Hyperprolinemia
• Hyperprolinemia type 2
• Hypertryptophanemia
• Hypolipoproteinemia
• Hypophosphatasia
• I cell disease
• Imerslund-Grasbeck syndrome
• Iminoglycinuria
• Inclusion body myopathy 2
• Inclusion body myopathy 3
• Infantile free sialic acid storage disease
• Infantile neuroaxonal dystrophy
• Infantile onset spinocerebellar ataxia
• Insulin-like growth factor I deficiency
• Intrinsic factor deficiency
• Isobutyryl-CoA dehydrogenase deficiency
• Isovaleric acidemia
• Kanzaki disease
• Kearns-Sayre syndrome
• Krabbe disease atypical due to Saposin A deficiency
• L-2-hydroxyglutaric aciduria
• L-arginine:glycine amidinotransferase deficiency
• Lactate dehydrogenase A deficiency
• Lactate dehydrogenase deficiency
• Lathosterolosis
• LCHAD deficiency
• Leber hereditary optic neuropathy
• Leigh syndrome, French Canadian type
• Lesch Nyhan syndrome
• Leucine-sensitive hypoglycemia of infancy
• Leukoencephalopathy – dystonia – motor neuropathy
• Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
• Limb-girdle muscular dystrophy type 2I
• Limb-girdle muscular dystrophy type 2K – See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2M – See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2N – See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2O – See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2T – See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy, type 2C
• Lipase deficiency combined
• Lipoic acid synthetase deficiency
• Lipoid proteinosis of Urbach and Wiethe
• Lowe oculocerebrorenal syndrome
• Lysinuric protein intolerance
• Malonyl-CoA decarboxylase deficiency
• MAN1B1-CDG
• Mannose-binding lectin protein deficiency – Not a rare disease
• Mannosidosis, beta A, lysosomal
• Maple syrup urine disease type 1A
• Maple syrup urine disease type 1B
• Maple syrup urine disease type 2
• Maternal hyperphenylalaninemia
• Maternally inherited diabetes and deafness
• Medium-chain acyl-coenzyme A dehydrogenase deficiency
• Megaloblastic anemia due to dihydrofolate reductase deficiency
• Menkes disease
• Metachromatic leukodystrophy
• Metachromatic leukodystrophy due to saposin B deficiency
• Methionine adenosyltransferase deficiency
• Methylcobalamin deficiency cbl G type
• Methylmalonic acidemia with homocystinuria type cblC
• Methylmalonic acidemia with homocystinuria type cblD
• Methylmalonic acidemia with homocystinuria type cblF
• Methylmalonic acidemia with homocystinuria type cblJ
• Methylmalonic aciduria, cblA type
• Methylmalonic aciduria, cblB type
• Mevalonic aciduria
• MGAT2-CDG (CDG-IIa)
• Mild phenylketonuria
• Mitochondrial complex I deficiency
• Mitochondrial complex II deficiency
• Mitochondrial complex III deficiency
• Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
• Mitochondrial DNA-associated Leigh syndrome
• Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
• Mitochondrial myopathy with diabetes
• Mitochondrial myopathy with lactic acidosis
• Mitochondrial neurogastrointestinal encephalopathy syndrome
• Mitochondrial trifunctional protein deficiency
• MOGS-CDG (CDG-IIb)
• Mohr-Tranebjaerg syndrome
• Molybdenum cofactor deficiency
• Monogenic diabetes – Not a rare disease
• Morquio syndrome B
• MPDU1-CDG (CDG-If)
• MPI-CDG (CDG-Ib)
• MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Mucolipidosis III alpha/beta
• Mucolipidosis type 4
• Mucopolysaccharidosis type II
• Mucopolysaccharidosis type III
• Mucopolysaccharidosis type IIIA
• Mucopolysaccharidosis type IIIB
• Mucopolysaccharidosis type IIIC
• Mucopolysaccharidosis type IIID
• Mucopolysaccharidosis type IVA
• Mucopolysaccharidosis type VI
• Mucopolysaccharidosis type VII
• Multiple congenital anomalies-hypotonia-seizures syndrome
• Multiple congenital anomalies-hypotonia-seizures syndrome type 2
• Multiple endocrine neoplasia type 2B
• Multiple sulfatase deficiency
• Multiple symmetric lipomatosis
• Muscle eye brain disease
• Muscular dystrophy, congenital, megaconial type
• Muscular phosphorylase kinase deficiency
• Musculocontractural Ehlers-Danlos syndrome
• Myoclonic epilepsy with ragged red fibers
• Myoglobinuria recurrent
• N acetyltransferase deficiency
• N-acetyl-alpha-D-galactosaminidase deficiency type III
• N-acetylglutamate synthase deficiency
• NBIA/DYT/PARK-PLA2G6
• Neonatal adrenoleukodystrophy
• Neonatal hemochromatosis
• Neonatal intrahepatic cholestasis caused by citrin deficiency
• Nephrogenic diabetes insipidus
• Neu Laxova syndrome
• Neuroferritinopathy
• Neuronal ceroid lipofuscinosis 10
• Neuronal ceroid lipofuscinosis 2
• Neuronal ceroid lipofuscinosis 3
• Neuronal ceroid lipofuscinosis 5
• Neuronal ceroid lipofuscinosis 6
• Neuronal ceroid lipofuscinosis 7
• Neuronal ceroid lipofuscinosis 9
• Neuropathy ataxia retinitis pigmentosa syndrome
• Neutral lipid storage disease with myopathy
• Niemann-Pick disease type A
• Niemann-Pick disease type B
• Niemann-Pick disease type C1
• Niemann-Pick disease type C2
• Northern epilepsy
• Not otherwise specified 3-MGA-uria type
• Occipital horn syndrome
• Ocular albinism type 1
• Oculocutaneous albinism type 1
• Oculocutaneous albinism type 1B
• Oculocutaneous albinism type 2
• Oculocutaneous albinism type 3
• OPA3 defect
• Optic atrophy 1
• Ornithine transcarbamylase deficiency
• Ornithine translocase deficiency syndrome
• Orotic aciduria type 1
• Papillon Lefevre syndrome
• Parkinson disease type 9
• Paroxysmal nocturnal hemoglobinuria
• Pearson syndrome
• Pentosuria
• Permanent neonatal diabetes mellitus
• Peroxisomal biogenesis disorders
• Peroxisome disorders
• Perrault syndrome
• Peters plus syndrome
• PGM1-CDG
• Phosphoglycerate kinase deficiency
• Phosphoglycerate mutase deficiency
• Phosphoribosylpyrophosphate synthetase deficiency
• PMM2-CDG (CDG-Ia)
• Pontocerebellar hypoplasia type 6
• Porphyria cutanea tarda
• Primary carnitine deficiency
• Primary hyperoxaluria type 1
• Primary hyperoxaluria type 2
• Primary hyperoxaluria type 3
• Primary hypomagnesemia with secondary hypocalcemia
• Progressive external ophthalmoplegia, autosomal recessive 1
• Progressive familial intrahepatic cholestasis 1
• Progressive familial intrahepatic cholestasis type 2
• Progressive familial intrahepatic cholestasis type 3
• Prolidase deficiency
• Propionic acidemia
• Pseudocholinesterase deficiency
• Pseudoneonatal adrenoleukodystrophy
• Purine nucleoside phosphorylase deficiency
• Pycnodysostosis
• Pyridoxal 5′-phosphate-dependent epilepsy
• Pyridoxine-dependent epilepsy
• Pyruvate carboxylase deficiency
• Pyruvate dehydrogenase complex deficiency
• Pyruvate dehydrogenase phosphatase deficiency
• Pyruvate kinase deficiency
• Refsum disease
• Refsum disease with increased pipecolic acidemia
• Refsum disease, infantile form
• Renal glycosuria
• Renal hypomagnesemia 2
• Renal hypomagnesemia-6
• Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
• RFT1-CDG (CDG-In)
• Rhizomelic chondrodysplasia punctata type 3
• Rotor syndrome
• Saccharopinuria
• Salla disease
• Sarcosinemia
• Scheie syndrome
• Schimke immunoosseous dysplasia
• Schindler disease type 1
• Schneckenbecken dysplasia
• SCOT deficiency
• Sea-Blue histiocytosis
• Sengers syndrome
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• Sepiapterin reductase deficiency
• Severe combined immunodeficiency
• Short-chain acyl-CoA dehydrogenase deficiency
• Sialidosis type I
• Sialidosis, type II
• Sialuria, French type
• Sideroblastic anemia and mitochondrial myopathy
• Sitosterolemia
• Sjogren-Larsson syndrome
• SLC35A1-CDG (CDG-IIf)
• SLC35A2-CDG
• SLC35C1-CDG (CDG-IIc)
• Smith-Lemli-Opitz syndrome
• Spastic paraplegia 7
• Spinocerebellar ataxia 28
• Spinocerebellar ataxia autosomal recessive 3
• Spondylocostal dysostosis 1
• Spondylocostal dysostosis 2
• Spondylocostal dysostosis 3
• Spondylocostal dysostosis 4
• Spondylocostal dysostosis 6
• Spondylodysplastic Ehlers-Danlos syndrome
• Spondyloepimetaphyseal dysplasia joint laxity
• Spondylothoracic dysostosis
• SRD5A3-CDG (CDG-Iq)
• SSR4-CDG
• Succinic semialdehyde dehydrogenase deficiency
• Tangier disease
• Tay-Sachs disease
• Thiamine responsive megaloblastic anemia syndrome
• Thiopurine S methyltranferase deficiency
• Tiglic acidemia
• TMEM165-CDG (CDG-IIk)
• Transaldolase deficiency
• Transcobalamin 1 deficiency
• Transient neonatal diabetes mellitus
• Trehalase deficiency
• Trimethylaminuria
• Triosephosphate isomerase deficiency
• Tyrosine hydroxylase deficiency
• Tyrosine-oxidase temporary deficiency
• Tyrosinemia type 1
• Tyrosinemia type 2
• Tyrosinemia type 3
• Urea cycle disorders
• Valinemia
• Variegate porphyria
• VLCAD deficiency
• Walker-Warburg syndrome
• Wilson disease
• Wolfram syndrome
• Wolman disease
• Wrinkly skin syndrome
• X-linked adrenoleukodystrophy
• X-linked Charcot-Marie-Tooth disease type 5
• X-linked creatine deficiency
• X-linked dominant chondrodysplasia punctata 2
• X-linked sideroblastic anemia
• Xanthinuria type 1
• Xanthinuria type 2
• Zellweger syndrome

Inherited metabolic disorders

Inherited metabolic disorders refer to different types of medical conditions caused by genetic defects — most commonly inherited from both parents — that interfere with the body’s metabolism. Inherited metabolic disorders may also be called inborn errors of metabolism.

Metabolism is the complex set of chemical reactions that your body uses to maintain life, including energy production. Special enzymes break down food or certain chemicals so your body can use them right away for fuel or store them. Also, certain chemical processes break down substances that your body no longer needs, or make those it lacks.

When these chemical processes don’t work properly due to a hormone or enzyme deficiency, a metabolic disorder occurs. Inherited metabolic disorders fall into different categories, depending on the specific substance and whether it builds up in harmful amounts (because it can’t be broken down), it’s too low or it’s missing.

There are hundreds of inherited metabolic disorders, caused by different genetic defects. Examples include:

• Familial hypercholesterolemia
• Gaucher disease
• Hunter syndrome
• Krabbe disease
• Maple syrup urine disease
• Metachromatic leukodystrophy
• Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS)
• Niemann-Pick
• Phenylketonuria (PKU)
• Porphyria
• Tay-Sachs disease
• Wilson’s disease

Some metabolic disorders can be diagnosed by routine screening tests done at birth. Others are identified only after a child or adult shows symptoms of a disorder.

Treatment for an inherited metabolic disorder depends on the type and severity of the disorder. Because there are so many types of inherited metabolic disorders, treatment recommendations may vary considerably — from dietary restrictions to liver transplants.

Metabolic disorders symptoms

G6PD deficiency

Glucose-6-phosphate dehydrogenase (G6PD) is just one of the many enzymes that play a role in cell metabolism. G6PD is produced by red blood cells (RBCs) and helps the body metabolize carbohydrates. Without enough normal G6PD to help red blood cells handle certain harmful substances, the cells can be damaged or destroyed, leading to hemolytic anemia. In a process called hemolysis, red blood cells are destroyed prematurely, and the bone marrow (the soft, spongy part of the bone that produces new blood cells) may not be able to produce enough new red blood cells.

Children with G6PD deficiency may be pale and tired and have a rapid heartbeat and breathing. They may also have an enlarged spleen or jaundice (yellowing of the skin and eyes). G6PD deficiency is usually treated by stopping medicines or treating the illness or infection causing the stress on the red blood cells.

Galactosemia

Babies born with this inborn error of metabolism lack the enzyme that converts galactose (one of two sugars found in lactose) into glucose, a sugar the body is able to use. As a result, milk (including breast milk) and other dairy products must be eliminated from the diet. Otherwise, galactose can build up in the system and damage the body’s cells and organs, leading to blindness, severe intellectual disability, growth deficiency, and even death.

Hyperthyroidism

This is when an overactive thyroid gland releases too much of the hormone thyroxine, which increases basal metabolic rate (BMR). Your basal metabolic rate (BMR) is a measure of the rate at which your body “burns” energy, in the form of calories, while at rest. Hyperthyroidism causes symptoms such as weight loss, increased heart rate and blood pressure, protruding eyes, and a swelling in the neck from an enlarged thyroid (goiter). Hyperthyroidism may be controlled with medicines or through surgery or radiation treatments.

Hypothyroidism

This is when an absent or underactive thyroid (due to a developmental problem or thyroid disease) causes the release of too little of the hormone thyroxine, which lowers basal metabolic rate (BMR).

If not treated, hypothyroidism can result in stunted growth and intellectual disability in infants and young children. Hypothyroidism slows body processes and causes fatigue (tiredness), slow heart rate, excessive weight gain, and constipation. People with this condition can be treated with oral thyroid hormone.

Phenylketonuria (PKU)

Babies with phenylketonuria (PKU) can’t metabolize the amino acid phenylalanine due to a defect in the phenylalanine hydroxylase enzyme. Phenylalanine amino acid, which is found in high-protein foods like breast milk, cow’s milk, and meat, is necessary for normal growth in infants and children and for normal protein production. A buildup of phenylalanine amino acid in the bloodstream can affect brain development and lead to intellectual and developmental disability. Symptoms can include delayed mental or social skills, seizures or tremors, hyperactivity, skin rashes (eczema), small head size, and a musty odor in the child’s breath, skin, or urine. According to the latest statistics, about one in 10,000 to 15,000 newborns in the United States is diagnosed with PKU each year.

Newborns with phenylketonuria (PKU) initially don’t have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months.

Phenylketonuria (PKU) signs and symptoms can be mild or severe and may include:

• A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body
• Neurological problems that may include seizures
• Skin rashes (eczema)
• Fair skin and blue eyes, because phenylalanine can’t transform into melanin — the pigment responsible for hair and skin tone
• Abnormally small head (microcephaly)
• Hyperactivity
• Intellectual disability
• Delayed development
• Behavioral, emotional and social problems
• Psychiatric disorders

Severity varies

The severity of phenylketonuria (PKU) depends on the type.

• Classic PKU. The most severe form of the disorder is called classic PKU. The enzyme needed to convert phenylalanine is missing or severely reduced, resulting in high levels of phenylalanine and severe brain damage.
• Less severe forms of PKU. In mild or moderate forms, the enzyme retains some function, so phenylalanine levels are not as high, resulting in a smaller risk of significant brain damage.

But most children with the disorder still require a special PKU diet to prevent intellectual disability and other complications.

Early diagnosis and dietary restriction of the amino acid can prevent or lessen the severity of these complications. The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals you can’t get from their food.

Type 1 diabetes

Type 1 diabetes is when your pancreas doesn’t produce and secrete enough insulin. Symptoms of type 1 diabetes include excessive thirst and urination, hunger, and weight loss. Over the long term, it can cause kidney problems, pain due to nerve damage, blindness, and heart and blood vessel disease. Kids and teens with type 1 diabetes need to get regular insulin injections and to control their blood sugar levels to reduce the risk of developing complications.

Type 2 diabetes

Type 2 diabetes is when your body can’t respond normally to insulin. Symptoms are similar to those of type 1 diabetes. Many people who develop type 2 diabetes are overweight, which is thought to play a role in their decreased responsiveness to insulin. Some can be treated successfully with dietary changes, exercise, and oral medicine, but insulin injections are necessary in other cases. Controlling blood sugar levels reduces the risk of developing the same kinds of long-term health problems that happen with type 1 diabetes.

Galactosemia

Babies with galactosemia can’t convert galactose (a milk sugar) into glucose (sugar in the blood). When galactose builds up in a baby’s system it can damage the liver, kidneys, eyes and brain, causing vomiting, jaundice, convulsions, and eventually liver disease, kidney failure, retardation, and death. Symptoms include jaundice, vomiting, poor feeding (refusal to drink milk-containing formula), poor weight gain and convulsions. About one in 50,000 to 60,000 babies in the US is diagnosed with galactosemia each year.

Medium-chain acyl-CoA dehydrogenase deficiency

Babies with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency can’t convert fat into energy. There are no symptoms at birth — they typically develop between the second month and second year of life. Symptoms often occur when your child goes a long time between feedings and can include vomiting, lethargy and low blood sugar (hypoglycemia). If left untreated, it can cause seizures, liver damage, brain damage and death. About one in 17,000 babies in the US is diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency each year.

Maple-syrup urine disease

Babies with maple-syrup urine disease (MSUD) are missing an enzyme needed to metabolize three essential amino acids needed for growth. This can cause the amino acids to build up in the blood, leading to poor feeding, urine that smells like maple syrup (which is how the disorder got its name), and eventually intellectual disability, coma, and death. Symptoms include feeding difficulties, coma, lethargy, seizures, vomiting and urine that smells like maple syrup. About one in 185,000 per year is diagnosed with maple-syrup urine disease worldwide.