Biochem Q ? - bosonto

[ArchivalUser]

7 month old girl in ER 25 mins after she had a generalized -tonic-clonic seizure. Failure 2 thrive & developmental delay since birth. 3rd percentile for length & weight. Microcephaly, tachypnea & hypotonia. Labs- hypoglycemia,hyperalaninemia & lactic acidosis. After I/V glucose, serum glucose normal. Deficiency of which enzyme activities?

A. Pyruvate Carboxylase.
B. Triose -Phosphate Isomerase.

Please answer with explanation.

[ArchivalUser]

should be pyruvate carboxylase, i think

alanine--(ALT)---> pyruvate---(pyruvate carboxylase)--->OAA----->glucose

So deficiency will cause backup of alanine and hypoglycemia, so cells would revert to anaerobic metabolism, and hence the lactic acidosis.

GTC can be cz of the hypoglycemia.

Good Luck

[ArchivalUser]

Thanks Urapaine2me. That was my answer too.
So, the answer,
A. Pyruvate Carboxylase

[ArchivalUser]

triose phosphate isomerase has to do with the conversion of

Dihydroxyacetone P ----> Glyceraldehyde 3 P

this does NOT require alanine