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