phuluong2k
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Fraternal twin has episodes of fasting hypoglycaemia, hypoketonemia and muscle weakness occur only during caloric deprivation, One twin dies at 5 months of age, the surviving twin has cardiomyopathy diagnosed at 3 yrs of age, normal carnitine ester in serum & tissue
Which is the most likely diagnosis ?
A. Alpha L Iduronidase deficiency
B. Pompe disease
C. Carnitine uptake deficiency
D. Long chain acyl CoA dehydrogenase deficiency
E. Muscle glycogen phosphorylase deficiency
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| kmp
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B. Pompe disease
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| phuluong2k
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It is not pompe, although the patient has cardiomyopathy
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| kmp
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is it D. Long chain acyl CoA dehydrogenase deficiency ??
In Pompe disease death by 2 years.( phuluong2k Any other explanation why it is not pompes diseaes? )
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| phuluong2k
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I pick this q in qbank
They say that generally glycogen storage disease, the fatty acid oxidation is normal :arrow: increase Keton body
Hypoglycemia & hypoketonemia :arrow: Problem at beta oxidation
LCAD deficiency or carnitine uptake deficiency
In this case, normal carnitine ester in serum & tissue :arrow: LCAD deficiency
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| kmp
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Thank you phuluong2k.
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