drpkaur
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Pyroglutamic acidemia was first noted in an 18-year-old man with chronic metabolic acidosis, mental retardation ataxia and spastic quadriplegia. Patients affected with this disorder showed elevated urine concentrations of pyroglutamic acid. Pyroglutamic acidemia is inherited as an autosomal recessive trait. This condition is due to the deficiency of the enzyme
A glutaryl -Co A dehydrogenase
B medium chain acyl CoA dehydrogenase
C long chain acyl CoA dehydrogenase
D electron transfer flavoprotein
E glutathione synthetase
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| zenith
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E.
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| goodyear
Forum Guru
Topics: 16
Posts: 409
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yup.. Pyroglutamic acidemia is-def. of glutathione synthase. Clin. mani. of severe met. acidosis, hemolytic anemia & neuro problems. Mild GS def. usually occurs in erthrocytes.
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| oldkidontheblock
Forum Guru
Topics: 54
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I think its not mentioned in KLN....is it?
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| ssrpk
Forum Fanatic
Topics: 154
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glutathione synthase deficeincy does'nt explain metabolic acidosis in this patient, and certainly not the neurological problems to the extent of causing spatic quadriplegia!
if u notice carefully! pyroglutamic acidemia is present in the blood! which contains glutamic acid,and if u remember the structure of glutamic acid, it contains two carboxylic acids....thus its a dicarboxylic acidemia which is classic of MCAD (medium chain acyl-CoA deficiency).....other scenarios also fit in, for eg. fasting hypoglycemia and hypoketonemia will deprive the brain of all sorts of fuels that it can utilize which explains very well the extent of neurological dysfunction!
answer is B medium chain acyl CoA dehydrogenase
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| drpkaur
Forum Guru
Topics: 195
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Guys check out this page...http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266130
THE answer is E..
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| ssrpk
Forum Fanatic
Topics: 154
Posts: 2,814
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i certainly would have fallen for this one on the boards!
thanks man! this certainly is a new (although very heavy) edition to my biochemistry notes!
good luck!
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