Alkaptonuria occurs due to deficiency of the enzyme: (A) Maleylacetoacetate isomerase (B) Homogentisate oxidase (C) p-Hydroxyphenylpyruvate hydroxylase (D) Fumarylacetoacetate hydrolase Last Answer : Answer : B...
In which of the following is mental retardation an expected finding? 1) Alkaptonuria 2) Cystinuria 3) Glycogen storage disease 4) Lactose intolerance 5) Maple syrup urine disease Last Answer : Answers-5 MENTAL RETARDATION. Fragile X syndrome-commonest male cause. Hypoxia at birth, intaventricular haemorrhage, rhesus disease, Congenital infections - toxoplasmosis, CMV, rubella ... with diet. -homocystinuria, phenylketonuria -maple syrup urine disease, tryptophanuria -galactosaemia...
All the following are true about phenylketonuria except (A) Deficiency of phenylalanine hydroxylase (B) Mental retardation (C) Increased urinary excretion of p-hydroxyphenyl pyruvic acid (D) Decrease serotonin formation Last Answer : Answer : C...
Ochronosis is an important finding of (A) Tyrosinemia (B) Tyrosinosis (C) Alkaptonuria (D) Richner Hanhart syndrome FATS AND FATTY ACID METABOLISM 77 Last Answer : Answer : C...
Increased urinary indole acetic acid is diagnostic of (A) Maple syrup urine disease (B) Hartnup disease (C) Homocystinuia (D) Phenylketonuria Last Answer : Answer : B...
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