Question-- A 3 years old child was brought to GP. He was found to have severe mental retardation, hazy corneas, enlarged liver and spleen and several bone abnormalities. What lab test you will perform to diagnose the disease–
A. Phenylelanine hydroxylase
B. Cystathione -B-synthase
C. Ornithine trascarbamylase
D. Uric acid
E.Urinary excretion of dermatan sulfate and heparan sulfate
Question – A 14 months old girl has developmental delay and increased refelexes. On physical examination she was found to have cherry red refex in both eyes. What could be the possibility
A. Phenylketonuria
B. Tay-Sachs disease
C. Tyrosenemia
D. Maple syrup urine disaese
E. Homocysteinuria
Question --A 5 days old female baby was diagnosed as having jaundice, loose motions and vomiting. She was found to have cataract and in-large liver and spleen. Urinalysis is found to have reducing substance. What is true about that condition:
A. Cataract is due to glucose
B. Always do glucose tolerance test
C. Elimination of galactose is necessary from the diet
D. Enzyme essay is not necessary
E. increased galactose 1-phosphate uridyl transferase activity
Question --A 17 days old previously healthy neonate found to be lethargic and increased muscular rigidity. Lab results shows there is no infection but baby had low glucose with metabolic acidosis and increased levels of leucine, isoleucine and valine in the blood. The most likely diagnosis is –
A. Viral infection
B. Tuberculosis infection
C. Galactosemia
D. Phenylketonuria
E. Maple syrup urine disease
Question – A 36 hours old boy was brought to emergency department with complaint of poor feeding, nausea, vomiting, and increasing lethargy. Newborn went into coma after few hours and was ventilated. Lab results showed:
Respiratory alkalosis
Elevated blood ammonia levels
Elevated levels of unine orotic acid
The most likely diagnosis is—
A. Phenylketonuria
B. galactosemia
C. Pellegra
D.Ornithine transcabamylase deficiency
E. Pernicious anemia