Metabolic disorders
Inherited metabolic disorders/diseases refer to different types of medical conditions caused by defects in our genes- most commonly inherited from both parents and that interfere with the body's metabolism. These conditions may also be referred to as inborn errors of metabolism.
It's an exciting time as advances in the diagnosis and treatment of many inborn errors of metabolism have improved the outlook for many of patients. Early diagnosis becomes very important.
- 2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) Deficiency
- 3-hydroxy-3-methylglutaric aciduria - See 3-hydroxy-3-methylglutaric aciduria (HMG)
- 3-hydroxy-3-methylglutaric aciduria (HMG)
- AATD - See Alpha-1-antitrypsin deficiency
- Acid spingomyelinase deficiency - See Niemann-pick types a/b
- Acute intermittent porphyria
- Acyl-coa dehydrogenase, medium-chain, deficiency of
- Acyl-coa dehydrogenase, short-chain, deficiency of
- Adrenoleukodystrophy
- AGL deficiency - See Glycogen storage disease type III
- Alkaptonuria
- Alpha-1-antitrypsin deficiency
- Alpha-Galactosidase A deficiency - See Fabry disease
- Alpha-mannosidosis
- Amylo-1,6-glucosidase deficiency - See Glycogen storage disease type III
- Anderson-Fabry disease - See Fabry disease
- Angiokeratoma corporis diffusum - See Fabry disease
- Antley-Bixler syndrome
- ARG1 deficiency - See Argininemia
- Argininemia
- Arts syndrome
- arylsulfatase B deficiency - See Mucopolysaccharidosis Type VI
- Barth syndrome
- beta-glucuronidase Deficiency - See Mucopolysaccharidosis Type VII
- Biotinidase deficiency
- Bronze Schilder Disease - See Adrenoleukodystrophy
- Cerebral sclerosis - See Adrenoleukodystrophy
- Cerebrotendinous xanthomatosis
- Congenital disorder of glycosylation, type ia
- Cori disease - See Glycogen storage disease type III
- CTX - See Cerebrotendinous xanthomatosis
- Cystinosis
- Dihydrolipoamide dehydrogenase deficiency
- Fabry - See Fabry disease
- Fabry disease
- Forbes disease - See Glycogen storage disease type III
- Gaucher disease
- GLA deficiency - See Fabry disease
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency
- Glutaric acidemia type 1
- Glutaric acidemia type 2
- Glycogen storage disease 1a
- Glycogen storage disease IIIa - See Glycogen storage disease type III
- Glycogen storage disease IIIb - See Glycogen storage disease type III
- Glycogen storage disease type III
- GSD 3 - See Glycogen storage disease type III
- GSD III - See Glycogen storage disease type III
- HMG - See 3-hydroxy-3-methylglutaric aciduria (HMG)
- Homocystinuria
- HPP - See Hypophosphatasia
- Hunter syndrome - See Mucopolysaccharidosis Type II
- Hurler syndrome - See Mucopolysaccharidosis Type I
- Hurler-Scheie syndrome - See Mucopolysaccharidosis Type I
- Hypophosphatasia
- Isovaleric acidemia
- Leber hereditary optic neuropathy
- Lowe oculocerebrorenal syndrome
- Lysosomal acid lipase deficiency
- Maple syrup urine disease
- Maroteaux-Lamy syndrome - See Mucopolysaccharidosis Type VI
- MCAD deficiency - See Acyl-coa dehydrogenase, medium-chain, deficiency of
- Melanodermic leukodystrophy - See Adrenoleukodystrophy
- Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- MPS I - See Mucopolysaccharidosis Type I
- MPS I H - See Mucopolysaccharidosis Type I
- MPS I H-S - See Mucopolysaccharidosis Type I
- MPS I S - See Mucopolysaccharidosis Type I
- MPS II - See Mucopolysaccharidosis Type II
- MPS III - See Mucopolysaccharidosis Type III
- MPS VI - See Mucopolysaccharidosis Type VI
- MPS VII - See Mucopolysaccharidosis Type VII
- mucopolysaccharidosis I - See Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type II
- Mucopolysaccharidosis Type III
- Mucopolysaccharidosis Type VI
- Mucopolysaccharidosis Type VII
- N-acetylgalactosamino-4-sulfatase-deficiency - See Mucopolysaccharidosis Type VI
- Niemann-pick type c
- Niemann-pick types a/b
- Ornithine transcarbamylase (OTC) deficiency
- Propionic acidemia
- Rathbun disease - See Hypophosphatasia
- Sandhoff disease
- Sanfilippo syndrome - See Mucopolysaccharidosis Type III
- SCADD - See Acyl-coa dehydrogenase, short-chain, deficiency of
- Scheie syndrome - See Mucopolysaccharidosis Type I
- Schilder disease - See Adrenoleukodystrophy
- Schilder-Addison Complex - See Adrenoleukodystrophy
- Siemerling-Creutzfeldt Diease - See Adrenoleukodystrophy
- Sly syndrome - See Mucopolysaccharidosis Type VII
- Smith-Lemli-Opitz syndrome
- Sphingomyelinase deficiency - See Niemann-pick types a/b
- Tay-Sachs disease
- Trimethylaminuria
- TT1 - See Tyrosinemia Type I
- Tyrosinemia Type I
- Tyrosinemia Type II
- Wilson disease
- X-linked adrenoleukodystrophy - See Adrenoleukodystrophy
