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

• Biotin metabolism:
  • Biotinidase deficiency
  • Holocarboxylase synthetase deficiency
• Thiamine metabolism:
  • Thiamine pyrophosphate synthetase deficiency
  • Thiamine-responsive megaloblastic anemia syndrome
• Cobalamin (vitamin B12) metabolism:
  • Cobalamin C (CblC) defect
  • Methylmalonic acidemia with homocystinuria
• Folate metabolism:
  • Cerebral folate deficiency
  • Methylenetetrahydrofolate reductase (MTHFR) deficiency
• Vitamin D-dependent rickets (types I and II)

Disorders of Metal Metabolism

• Copper metabolism:
  • Wilson disease
  • Menkes disease
• Iron metabolism:
  • Hereditary hemochromatosis
  • Neurodegeneration with brain iron accumulation (NBIA)
• Zinc metabolism:
  • Acrodermatitis enteropathica

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)

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