A 3-week-old neonate who began vomiting 2 days after birth, usually within 30 minutes after breastfeeding. He also has abdominal distension with enlargement of liver, with jaundice. The consulting doctor did two urine dipstick test, one specific for glucose was negative, second test specific for reducing sugar was positive. What is the diagnosis?
Correct Answer: Classic galactosemia
Description: Ans. B. Classic GalactosemiaIdentifying features* Classic galactosemia is a serious disease with onset of symptoms typically by the 2nd half of the 1st wk of life.* With jaundice, vomiting, seizures, lethargy, irritability, feeding difficulties, poor weight gain or failure to regain birth weight.* Hepatomegaly Oil drop cataracts, Hepatic failure.* Mental retardation.* Demonstrating a reducing substance in several urine specimens collected while the patient is receiving human milk, cows milk, or any other formula containing lactose.* Benedict's Test PositiveQ* Clinistix urine test results are usually negative because the test materials rely on the action of glucose oxidase, which is specific for glucose and is nonreactive with galactose (Glucose Oxidase Test is negative)
Category:
Biochemistry
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