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:
Amino acid metabolic pathology
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v
t
e
Inborn errors
of
amino acid metabolism
(
E70-72
,
270
)
K
Template:Navbox subgroup
G
→
pyruvate
Template:Navbox subgroup
G→
alpha-ketoglutarate
Template:Navbox subgroup
G→
succinyl-CoA
Template:Navbox subgroup
G→
fumarate
Template:Navbox subgroup
G→
oxaloacetate
Template:Navbox subgroup
Transport
Cystinuria
-
Hartnup disease
-
Oculocerebrorenal syndrome
-
Lysinuric protein intolerance
-
Inborn errors of renal tubular transport
(
Cystinosis
,
Fanconi syndrome
)
Tyrosine
→
Melanin
Albinism
:
Ocular albinism
-
Oculocutaneous albinism
(
Hermansky-Pudlak syndrome
) -
Waardenburg syndrome
Glycine
→
Creatine
GAMT deficiency
Other
Trimethylaminuria
-
2-Hydroxyglutaric aciduria
-
Fumarase deficiency
see also
Amino acid metabolism enzymes
,
Urea cycle enzymes
,
intermediates
Categories
:
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