Category:Inborn errors of metabolism

A

• ► Amino acid metabolism disorders‎ (51 P)

C

• ► Cholesterol and steroid metabolism disorders‎ (20 P)

F

• ► Fatty-acid metabolism disorders‎ (15 P)

I

• ► Inborn errors of carbohydrate metabolism‎ (21 P)
• ► Inborn errors of purine-pyrimidine metabolism‎ (16 P)

L

• ► Lipid metabolism disorders‎ (25 P)
• ► Lysosomal storage diseases‎ (1 C, 79 P)

S

• ► Skin conditions resulting from errors in metabolism‎ (108 P)

• Inborn errors of metabolism
• Metabolic diseases

2

• 2,4-Dienoyl-CoA reductase deficiency

3

• 3-Hydroxyisobutyric aciduria

A

• Argininosuccinic acidemia

C

• Congenital analbuminemia

F

• Fatty-acid metabolism disorder

G

• Gyrate atrophy of choroid and retina

H

• Hawkinsin
• Holocarboxylase synthetase
• Homocystinuria due to cystathionine beta-synthase
• Hyperphenylalaninemia due to dihydropteridine reductase deficiency
• Hyperphenylalaninemia due to pterin-4-alpha-carbin

I

• Idiosyncrasy
• Inborn errors of amino acid metabolism

L

• Lesch-Nyhan syndrome

M

• Metascreen

O

• Ornithine translocase
• Orotic aciduria

P

• Phenylalanine hydroxylase deficiency

S

• SCOT deficiency
• Succinyl-CoA:3-oxoacid CoA transferase deficiency

T

• Tyrosinemia
• Tyrosinemia type I
• Tyrosinemia type II