Category:Inborn errors of metabolism

A

• Amino acid metabolism disorders (34 P)

C

• Cholesterol and steroid metabolism disorders (16 P)

F

• Fatty-acid metabolism disorders (12 P)

I

• Inborn errors of carbohydrate metabolism (18 P)
• Inborn errors of purine-pyrimidine metabolism (12 P)

L

• Lipid metabolism disorders (13 P)
• Lysosomal storage diseases (1 C, 40 P)

S

• Skin conditions resulting from errors in metabolism (101 P)

• Inborn errors of metabolism

2

• 2,4-Dienoyl-CoA reductase deficiency

3

• 3-Hydroxyisobutyric aciduria

A

• Aromatic L-amino acid decarboxylase deficiency

C

• Congenital analbuminemia

F

• Fatty-acid metabolism disorder

G

• Glycogen storage disease
• Gyrate atrophy of choroid and retina

H

• Hawkinsin
• Holocarboxylase synthetase
• Hyperphenylalaninemia due to dihydropteridine reductase deficiency
• Hyperphenylalaninemia due to pterin-4-alpha-carbin

I

• Idiosyncrasy

M

• Metascreen

O

• Ornithine translocase
• Orotic aciduria

P

• Pyridoxine-dependent epilepsy

S

• Succinic semialdehyde dehydrogenase deficiency
• Succinyl-CoA:3-oxoacid CoA transferase deficiency

T

• Triosephosphate isomerase deficiency
• Tyrosinemia
• Tyrosinemia type I
• Tyrosinemia type II

V

• Very long-chain acyl-coenzyme A dehydrogenase deficiency