Inborn Errors of Metabolism — MCQs

An infant presents with vomiting after feeding. Benedict's test was positive for a non-glucose reducing substance. What is the most likely diagnosis?

Congenital lactic acidosis is primarily due to a defect in which enzyme?

Tay-Sachs disease is due to a deficiency of which enzyme?

Which amino acids accumulate in maple syrup urine disease?

In type IA Maple Syrup Urine Disease, which gene mutation is responsible?

The enzyme deficient in Galactosemia is:-

Neonatal tyrosinemia is due to deficiency of which enzyme?

Amount of ORS to be given in the first 4 hours to a child with some dehydration is

A 52-year-old man is admitted directly from the clinic for a serum glucose of 980 mg/dL. He has had type 2 diabetes for 16 years, for which he was prescribed metformin and glimepiride; however, he reports not having followed his prescription due to its high cost. For the past 12 days, he has had excess urination, and has lost 6 kg in weight. He has also noted a progressively worsening cough productive of greenish-brown sputum for approximately 20 days. His temperature is 38.9°C (102.02°F), blood pressure is 97/62 mm Hg, pulse is 97/minute and respiratory rate is 26/minute. On physical examination, he is somnolent, his eyes are sunken, and there are crackles at the left lung base. Lab results are shown: Arterial pH: 7.33 Serum sodium: 130 mEq/L Serum potassium: 3 mEq/L Serum osmolality: 325 mOsm/kg Serum beta-hydroxybutyrate: negative Urinalysis: trace ketones Intravenous normal saline infusion is started. Which of the following is the best next step in this patient?

An 11-year-old boy was brought to the outpatient clinic with intention tremor and poor scholastic performance. His sister has similar complaints. On examination, hepatomegaly is seen. The eye finding is shown in the image. What is the probable diagnosis?