USMLE · Question #593
A 9-month-old male is evaluated for lactic acidosis and increased levels of serum alanine. He is diagnosed with pyruvate dehydrogenase complex deficiency and placed on a special diet by the…
The correct answer is D. leucine. Pyruvate dehydrogenase complex deficiency (PDCD) is a neurodegenerative disorder associated with abnormal mitochondrial metabolism. It can present in infants with hypotonia, poor feeding, lethargy, seizures, elevated serum alanine and lactic acidosis. Management is with…
Question
A 9-month-old male is evaluated for lactic acidosis and increased levels of serum alanine. He is diagnosed with pyruvate dehydrogenase complex deficiency and placed on a special diet by the physician. This special diet most likely consists of
Options
- Aalanine
- Basparagine
- Chistidine
- Dleucine
- Eserine
How the community answered
(17 responses)- A6% (1)
- B12% (2)
- D82% (14)
Explanation
Pyruvate dehydrogenase complex deficiency (PDCD) is a neurodegenerative disorder associated with abnormal mitochondrial metabolism. It can present in infants with hypotonia, poor feeding, lethargy, seizures, elevated serum alanine and lactic acidosis. Management is with ketogenic diets such as meals with increased lysine and leucine content and high fat intake.
Topics
Community Discussion
No community discussion yet for this question.