“Classical phenyl ketonuria” is caused by deficiency of
Correct Answer: Phenylalanine hydroxylase
Description: (Phenylalanine hydroxylase) (470 - RS 7th) (366 - U.S)PHENYLKETONURIA - 5 types of hyperphenylalaminemiasHYPER PHENYLALANINEMIASTypeConditionProbable enzyme defectTreatmentIClassical phenyl ketonuriaPhenylalanine hydroxylaseLow phenylalanine dietIIPeristent hyperphenyl alaninaemiaDecreased phenylalanine hydroxylase enzymeNone but temporary dietery therapyIIITransient mild hyperphenyl alaninaemiaMaturational delay of phenyl alanine hydroxylase enzymesSame as Type IIIVDihydropteridine reductase deficiencyDeficient or absent dihydropteridine reductaseDOPA, 5- 0 H tryptophan, carbidopaVAbnormal dihydrobiopterin functionDihydrobiopterin synthesis defectSame as type IV* Alkaptonuria - homogentisate oxidase deficiency enzyme* Type I Tyrosinaemia - Fumaryl acetoacetate hydrolase enzyme deficiency* Type II Tyrosinaemia - Hepatic transaminase enzyme deficiency* Hereditary tyrosinaemia - pOH - phenyl pyruvate oxidase enzyme deficiency
Category:
Biochemistry
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