Question of the Week

Question :
Posted On : 28 Feb 2006
1 year female paient has recurrent hypoglycaemic attacks with tachycardia tachypnoea, dehydration, ketonuria and severe metabolic acidosis {corrected with peritoneal dialysis}. Improves symptomatically. Genetic check done, other congenital abnmornalities, famaily history not contributory. Maple syrup,phenylketonuria screen negative...suspected fructose intolerance. Investigations also show incresed LDL reduced HDL and increased LDH. Could you please give probable diffrentials? Thank you
4
Expert Answer :
No expert answer available.
Answer Discussion :
S
Samiuddin
Profile
Glycogen storage disease type 1
19 years ago
D
dr.yogesh
Profile
urea cycle disorders,multiple carboxylase deficiency,Fattyacid oxidation disorders,VonGierkes disease
19 years ago
P
pediatriconcall
Profile
Rule out fatty acid oxidation defects, lactic acidosis, galactosemia and glycogen storage disorders.
19 years ago
N
nikhil agrawal
Profile
Isovaleric acidemia, methylmalonic acidemia, propionic acidemia and ketothiolase dficiency, and if there are skin manifestations also r-o multiple carboxylase deficiency
19 years ago




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