Friday, January 27, 2012

Enzyme deficiencies




DISEASE
Phenylketonuria


Alkaptonuria

Maple Syrup Urine Disease

Homocysteinuria


ENZYME DEFICIENT
Phenylalanine Hydroxylase
(Cofactor: Tetrahydrobiopterin)

Homogentisate Oxidase

Branched -Chain Ketoacid DHase
(=α-Ketoacid DHase)(TLCFN)

Cystathionine Synthase (B6)
Homocysteine Methyl Trasferase Methyl THF
Tx/SUPLEMENT
Tyrosine




Thiamine


Cisteine


AVOID
Phenylalanine, Aspartate

Phenylalanine, Tyrosine

Leucine
Valine
Isoleucine




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