Index
- Disorders of Carbohydrate Metabolism
- Disorders of Amino Acid Metabolism
- Disorders of Organic Acid Metabolism
- Disorders of Lipid Metabolism
- Disorders of Energy Metabolism
- Disorders of Purine and Pyrimidine Metabolism
- Disorders of Vitamin and Cofactor Metabolism
- Disorders of Urea Cycle Metabolism
- Lysosomal Storage Disorders
- Disorders of Neurotransmitter Metabolism
- Disorders of Cholesterol and Sterol Metabolism
Disorders of Carbohydrate Metabolism
- Glycogen Storage Diseases (GSDs):
- Type I (Von Gierke disease)
- Type II (Pompe disease)
- Type III (Cori-Forbes disease)
- Type IV (Andersen disease)
- Type V (McArdle disease)
- Type VI (Hers disease)
- Type VII (Tarui disease)
- Type IX (Phosphorylase kinase deficiency)
- Type 0 (Liver glycogen synthase deficiency)
- Galactose metabolism disorders:
- Galactosemia (GALT, GALE, and GALK deficiencies)
- Fructose metabolism disorders:
- Hereditary fructose intolerance
- Fructose-1,6-bisphosphatase deficiency
- Disorders of gluconeogenesis and glycolysis:
- Pyruvate kinase deficiency
- Pyruvate dehydrogenase complex deficiency
- Lactic acidemia syndromes:
- Pyruvate carboxylase deficiency
- Disorders of the Cori cycle
Disorders of Amino Acid Metabolism
- Phenylalanine metabolism disorders:
- Phenylketonuria (PKU)
- Hyperphenylalaninemia
- Tyrosine metabolism disorders:
- Tyrosinemia type I (fumarylacetoacetate hydrolase deficiency)
- Tyrosinemia type II (tyrosine aminotransferase deficiency)
- Tyrosinemia type III (4-hydroxyphenylpyruvate dioxygenase deficiency)
- Branched-chain amino acid disorders:
- Maple syrup urine disease (MSUD)
- Isovaleric acidemia
- 3-Methylcrotonyl-CoA carboxylase deficiency
- Sulfur amino acid disorders:
- Homocystinuria (cystathionine beta-synthase deficiency)
- Cystinuria
- Cystinosis
- Other amino acid metabolism disorders:
- Argininosuccinic aciduria
- Non-ketotic hyperglycinemia (glycine encephalopathy)
- Histidinemia
- Hyperprolinemia (types I and II)
Disorders of Organic Acid Metabolism
- Short-chain organic acidemias:
- Propionic acidemia
- Methylmalonic acidemia
- Isovaleric acidemia
- Dicarboxylic acidemias:
- Glutaric acidemia type I
- 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG-CoA lyase deficiency)
- Malonic acidemia
- Multiple carboxylase deficiency:
- Biotinidase deficiency
- Holocarboxylase synthetase deficiency
Disorders of Lipid Metabolism
- Fatty Acid Oxidation Disorders:
- Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
- Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
- Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
- Carnitine palmitoyltransferase deficiencies (CPT1 and CPT2)
- Carnitine transporter defect
- Peroxisomal disorders:
- Zellweger spectrum disorders
- Adrenoleukodystrophy
- Refsum disease
- Lysosomal lipid storage diseases:
- Gaucher disease
- Niemann-Pick disease types A, B, and C
- Farber lipogranulomatosis
- Wolman disease
- Cholesteryl ester storage disease
- Sphingolipidoses:
- Tay-Sachs disease
- Sandhoff disease
- Krabbe disease
- Fabry disease
- Metachromatic leukodystrophy
Disorders of Energy Metabolism
- Mitochondrial respiratory chain disorders:
- MELAS (Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes)
- Leigh syndrome
- MERRF (Myoclonic epilepsy with ragged red fibers)
- NARP (Neuropathy, ataxia, and retinitis pigmentosa)
- Kearns-Sayre syndrome
- Coenzyme Q10 deficiency
- Pyruvate dehydrogenase complex deficiency
- Krebs cycle enzyme deficiencies:
- Fumarase deficiency
- Succinate dehydrogenase deficiency
Disorders of Purine and Pyrimidine Metabolism
- Purine metabolism disorders:
- Lesch-Nyhan syndrome (HGPRT deficiency)
- Adenine phosphoribosyltransferase deficiency
- Xanthinuria
- Adenylosuccinate lyase deficiency
- Pyrimidine metabolism disorders:
- Dihydropyrimidine dehydrogenase deficiency
- Orotic aciduria
Disorders of Vitamin and Cofactor Metabolism
Disorders of Thiamine (Vitamin B1) Metabolism
- Thiamine-responsive megaloblastic anemia (TRMA)
- Biotin-thiamine-responsive basal ganglia disease (BTBGD)
- Maple syrup urine disease (MSUD) (thiamine-responsive variant)
- Wernicke-Korsakoff syndrome (acquired thiamine deficiency)
- Beriberi (dry and wet forms—acquired deficiency)
Disorders of Riboflavin (Vitamin B2) Metabolism
- Multiple acyl-CoA dehydrogenase deficiency (MADD, Glutaric Aciduria type II)
- Riboflavin transporter deficiency (formerly Brown-Vialetto-Van Laere syndrome & Fazio-Londe disease)
- Riboflavin-responsive mitochondrial disorders
Disorders of Niacin (Vitamin B3) Metabolism
- Pellagra (acquired niacin deficiency)
- Hartnup disease (impaired tryptophan absorption/conversion)
Disorders of Pyridoxine (Vitamin B6) Metabolism
- Pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
- Pyridoxal phosphate-responsive seizures (PNPO deficiency)
- Hypophosphatasia (alkaline phosphatase deficiency)
- Pyridoxine-responsive sideroblastic anemia
Disorders of Biotin (Vitamin B7) Metabolism
- Biotinidase deficiency
- Holocarboxylase synthetase deficiency
- Biotin transporter deficiency (biotin-responsive basal ganglia disease)
Disorders of Folate (Vitamin B9) Metabolism
- Hereditary folate malabsorption (SLC46A1 mutation)
- Cerebral folate deficiency syndrome (CFD)
- Methylenetetrahydrofolate reductase (MTHFR) deficiency
- Glutamate formiminotransferase-cyclodeaminase deficiency (FTCD)
- Dihydrofolate reductase (DHFR) deficiency
Disorders of Vitamin B12 (Cobalamin) Metabolism
- Intrinsic factor deficiency (congenital pernicious anemia)
- Imerslund-Gräsbeck syndrome (cobalamin absorption defect)
- Transcobalamin deficiency
- Methylmalonic acidemia (MMA) (Cbl A, B, C, D, F disorders)
- Combined methylmalonic acidemia and homocystinuria (CblC, CblD, CblF, CblJ)
- Adenosylcobalamin deficiency
- Methylcobalamin deficiency
Disorders of Ascorbic Acid (Vitamin C) Metabolism
- Scurvy (acquired deficiency)
- Vitamin C transporter deficiency (SLC23A1/SLC23A2 mutations)
Disorders of Vitamin A Metabolism
- Vitamin A deficiency (xerophthalmia, night blindness)
- Hypervitaminosis A
- Congenital disorders of retinoid metabolism
Disorders of Vitamin D Metabolism
- Vitamin D-dependent rickets Type 1A (CYP27B1)
- Vitamin D-dependent rickets Type 1B (CYP2R1)
- Vitamin D-dependent rickets Type 2A (VDR deficiency)
- Vitamin D-dependent rickets Type 2B (hormone response element defect)
Disorders of Vitamin E Metabolism
- Ataxia with vitamin E deficiency (AVED)
- Familial isolated vitamin E deficiency (FIVE)
- Abetalipoproteinemia (malabsorption syndrome)
Disorders of Vitamin K Metabolism
- Vitamin K deficiency bleeding (VKDB)
- Combined deficiency of vitamin K-dependent coagulation factors (VKCFD)
- Gamma-glutamyl carboxylase deficiency (GGCX)
- Vitamin K epoxide reductase deficiency (VKOR)
Disorders of Coenzyme Q10 Metabolism
- Primary Coenzyme Q10 deficiency (COQ2, COQ4, COQ6, COQ8A/ADCK3)
- Secondary CoQ10 deficiency
Disorders of Carnitine Metabolism
- Primary systemic carnitine deficiency (SLC22A5)
- Carnitine palmitoyltransferase I deficiency (CPT1)
- Carnitine palmitoyltransferase II deficiency (CPT2)
- Carnitine-acylcarnitine translocase deficiency (CACT)
Disorders of Creatine Metabolism
- Guanidinoacetate methyltransferase (GAMT) deficiency
- Arginine-glycine amidinotransferase (AGAT) deficiency
- Creatine transporter defect (SLC6A8)
Disorders of Alpha-Lipoic Acid Metabolism
- Lipoic acid synthetase deficiency (LIAS)
- Lipoyltransferase 1 deficiency (LIPT1)
- Lipoyltransferase 2 deficiency (LIPT2)
- Pyruvate dehydrogenase complex defects (lipoic acid metabolism)
Disorders of Tetrahydrobiopterin (BH4) Metabolism
- GTP cyclohydrolase I deficiency (GCH1, dopa-responsive dystonia)
- 6-Pyruvoyl-tetrahydropterin synthase deficiency (PTPS)
- Sepiapterin reductase deficiency (SPR)
- Dihydropteridine reductase deficiency (DHPR)
- Pterin-4-alpha-carbinolamine dehydratase deficiency (PCD)
Disorders of Copper Metabolism
- Wilson’s disease (ATP7B)
- Menkes disease (ATP7A)
- Occipital horn syndrome (ATP7A partial deficiency)
Disorders of Iron Metabolism
- Aceruloplasminemia
- Hereditary hemochromatosis
Disorders of Selenium Metabolism
- SECISBP2 deficiency
- Congenital deficiency of selenoproteins
Disorders of Urea Cycle Metabolism
- Primary urea cycle disorders:
- Carbamoyl phosphate synthetase I (CPSI) deficiency
- Ornithine transcarbamylase (OTC) deficiency
- Argininosuccinate lyase deficiency
- Argininosuccinate synthetase deficiency (Citrullinemia type I)
- Arginase deficiency (Argininemia)
- Secondary urea cycle disorders:
- N-acetylglutamate synthase (NAGS) deficiency
Lysosomal Storage Disorders
- Mucopolysaccharidoses (MPS):
- Hurler syndrome (MPS I)
- Hunter syndrome (MPS II)
- Sanfilippo syndrome (MPS III)
- Morquio syndrome (MPS IV)
- Maroteaux-Lamy syndrome (MPS VI)
- Sly syndrome (MPS VII)
- Oligosaccharidoses:
- Mannosidosis
- Fucosidosis
- Schindler disease
- Neuronal ceroid lipofuscinoses (NCLs):
- CLN1 (Infantile)
- CLN2 (Late infantile)
- CLN3 (Juvenile Batten disease)
- Niemann-Pick disease
Disorders of Neurotransmitter Metabolism
- Catecholamine and serotonin metabolism disorders:
- Tyrosine hydroxylase deficiency
- Aromatic L-amino acid decarboxylase (AADC) deficiency
- GABA metabolism disorders:
- Succinic semialdehyde dehydrogenase deficiency
- Monoamine oxidase (MAO) deficiency
- Pterin metabolism disorders:
- Tetrahydrobiopterin (BH4) deficiency
Disorders of Cholesterol and Sterol Metabolism
- Cholesterol synthesis disorders:
- Smith-Lemli-Opitz syndrome (SLOS)
- Lathosterolosis
- Desmosterolosis
- Sterol transport disorders:
- Niemann-Pick type C
- Sitosterolemia