Disorder Pathway defected enzyme
phenylalanine hydroxylase
impaired conversion of
Hyperphenylalaninemias phenylalanine to tyrosine —- that found only in the
liver and kidneys.
Tyrosinemia has several
forms, each of which is
Tyrosinemia accompanied by➔ high level
of tyrosine and phenolic
aciduria.
defect in tyrosine metabolism
Albinism results in a deficiency in the tyrosinase activity
production of melanin.
most frequently inborn error
Cystinuria
of a.a. transport
high levels of leucine,
isoleucine and valine.
These branched-chain a.a.s
are normally converted by
Maple syrup urine transamination to their
disease: corresponding -keto
acids, by keto acid dehydroghenase
the enzyme branched-chain
amino transfersae
thenoxidized intoacyl-
coenzymeA(CoA)derivativesb
ybranched-chain- keto acid
dehydroghenase.
phenylalanine hydroxylase
impaired conversion of
Hyperphenylalaninemias phenylalanine to tyrosine —- that found only in the
liver and kidneys.
Tyrosinemia has several
forms, each of which is
Tyrosinemia accompanied by➔ high level
of tyrosine and phenolic
aciduria.
defect in tyrosine metabolism
Albinism results in a deficiency in the tyrosinase activity
production of melanin.
most frequently inborn error
Cystinuria
of a.a. transport
high levels of leucine,
isoleucine and valine.
These branched-chain a.a.s
are normally converted by
Maple syrup urine transamination to their
disease: corresponding -keto
acids, by keto acid dehydroghenase
the enzyme branched-chain
amino transfersae
thenoxidized intoacyl-
coenzymeA(CoA)derivativesb
ybranched-chain- keto acid
dehydroghenase.
