A 5 year old boy is evaluated for progressive muscle weakness and exercise intolerance. He has had two prior hospitalizations for hypoglycemia during prolonged fasting. Examination reveals hypotonia and cardiomegaly. Laboratory studies show low ketones during hypoglycemia. Which of the following defects is the most likely cause of this presentation?
- A)Ornithine transcarbamylase deficiency
- B)Pyruvate dehydrogenase deficiency
- C)Systemic primary carnitine deficiency causing impaired cellular uptake of carnitineGABARITO
- D)Lysosomal acid alpha glucosidase deficiency
- E)Fructokinase deficiency
Explicação
This child has primary carnitine deficiency, which prevents transport of long chain fatty acids into mitochondria for beta oxidation. As a result, fasting leads to hypoketotic hypoglycemia, while skeletal and cardiac muscle develop weakness and cardiomyopathy ... Ver explicação completa e trilha adaptativa →