Condition library · 166 conditions
Metabolic Medicine conditions
Inherited metabolic conditions, usually assessed by a metabolic specialist or clinical geneticist.
The Doctor Index does not list this speciality yet. A family physician or paediatrician can assess and refer.
All metabolic medicine conditions
0–9
A
- Abetalipoproteinemia
- ACAD9 deficiency
- Acatalasemia
- Adenosine monophosphate deaminase deficiency
- Adult polyglucosan body disease
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ALG11-CDG
- ALG2-CDG
- ALG3-CDG
- ALG8-CDG
- ALG9-CDG
- Alkaptonuria
- Alpers-Huttenlocher syndrome
- Alpha-mannosidosis
- Alpha-N-acetylgalactosaminidase deficiency
- Amyloidosis
- Arginase deficiency
- Argininosuccinic aciduria
- Aromatic l-amino acid decarboxylase deficiency
- Aspartylglucosaminuria
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- Autosomal dominant hyperinsulinism due to SUR1 deficiency
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal recessive progressive external ophthalmoplegia
B
C
- Carbamoyl phosphate synthetase I deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine-acylcarnitine translocase deficiency
- Cerebrotendinous xanthomatosis
- Chronic neurovisceral acid sphingomyelinase deficiency
- Chylomicron retention disease
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- Citrullinemia type II
- COG7-CDG
- Combined malonic and methylmalonic aciduria
- Combined oxidative phosphorylation defect type 13
- Combined oxidative phosphorylation defect type 23
- Combined oxidative phosphorylation defect type 27
- Combined oxidative phosphorylation defect type 7
- Congenital hyperinsulinism due to HNF4A deficiency
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Costeff syndrome
- Cystinosis
D
E
F
G
- GABA-transaminase deficiency
- Galactosialidosis
- Gaucher Disease
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- Glutamate formiminotransferase deficiency
- Glycogen storage disease type I
- Glycogen storage disease type III
- Glycogen storage disease type IV
- Glycogen storage disease type V
- Glycogen storage disease type VI
- Glycogen storage disease type VII
- GM1 gangliosidosis
- GM3 synthase deficiency
- GRACILE syndrome
- Guanidinoacetate methyltransferase deficiency
H
- Hartnup disease
- Heme oxygenase-1 deficiency
- Hereditary fructose intolerance
- Histidinemia
- Holocarboxylase synthetase deficiency
- HSD10 disease
- Hyperinsulinism due to HNF1A deficiency
- Hyperinsulinism due to UCP2 deficiency
- Hyperlysinemia
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Hyperprolinemia type 2
I
K
L
M
- Malonyl-CoA decarboxylase deficiency
- MAN1B1-CDG
- Maple syrup urine disease
- Medium-chain acyl-CoA dehydrogenase deficiency
- MEGDEL syndrome
- Menkes syndrome
- Methylmalonic acidemia with homocystinuria
- Mevalonate kinase deficiency
- MGAT2-CDG
- Mitochondrial DNA-associated Leigh syndrome
- Mitochondrial trifunctional protein deficiency
- MOGS-CDG
- Monoamine oxidase A deficiency
- Mucolipidosis type IV
- Mucopolysaccharidosis type I
- Mucopolysaccharidosis type II
- Mucopolysaccharidosis type III
- Mucopolysaccharidosis type IV
- Mucopolysaccharidosis type VI
- Mucopolysaccharidosis type VII
- Multiple mitochondrial dysfunctions syndrome type 1
- Multiple mitochondrial dysfunctions syndrome type 2
- Multiple mitochondrial dysfunctions syndrome type 4
- Multiple sulfatase deficiency
N
O
P
- Pearson syndrome
- Peroxisomal acyl-CoA oxidase deficiency
- Phenylketonuria
- Phosphoenolpyruvate carboxykinase deficiency
- Phosphoribosylpyrophosphate synthetase superactivity
- Pompe disease
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- Prolidase deficiency
- Propionic acidemia
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase deficiency
S
- Sandhoff disease
- Seizures-scoliosis-macrocephaly syndrome
- Short-chain acyl-CoA dehydrogenase deficiency
- Short/branched chain acyl-CoA dehydrogenase deficiency
- Sialuria
- Sitosterolemia
- SLC39A8-CDG
- SRD5A3-CDG
- Succinic semialdehyde dehydrogenase deficiency
- Succinyl-CoA:3-ketoacid CoA transferase deficiency
- Symptomatic form of HFE-related hemochromatosis