TY - JOUR
T1 - Sibling screening of a case of pyroglutamic aciduria resulting in normal development- A case report
AU - Bhaskaranand, Nalini
AU - Kamath, Saritha U.
PY - 2018/4/1
Y1 - 2018/4/1
N2 - Pyroglutamic aciduria is a condition usually associated with metabolic acidosis and increased excretion of pyroglutamic acid in urine. It occurs due to metabolic defect in γ-glutamyl cycle. Here we report a case of 5-month-old male baby presented with respiratory symptoms who had a history of two months age sibling death due to pyroglutamic aciduria which was diagnosed by Gas Chromatography Mass Spectrometry (GCMS). Analysis of urine for organic acid by GCMS in the present baby also showed increased excretion of pyroglutamic acid. Hence in the present baby history of sibling death due to pyroglutamic aciduria led to the early diagnosis. Proper medication and timely management during fever and cold resulted in normal development.
AB - Pyroglutamic aciduria is a condition usually associated with metabolic acidosis and increased excretion of pyroglutamic acid in urine. It occurs due to metabolic defect in γ-glutamyl cycle. Here we report a case of 5-month-old male baby presented with respiratory symptoms who had a history of two months age sibling death due to pyroglutamic aciduria which was diagnosed by Gas Chromatography Mass Spectrometry (GCMS). Analysis of urine for organic acid by GCMS in the present baby also showed increased excretion of pyroglutamic acid. Hence in the present baby history of sibling death due to pyroglutamic aciduria led to the early diagnosis. Proper medication and timely management during fever and cold resulted in normal development.
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U2 - 10.7860/JCDR/2018/35400.11405
DO - 10.7860/JCDR/2018/35400.11405
M3 - Article
AN - SCOPUS:85045882571
SN - 2249-782X
VL - 12
SP - SD05-SD06
JO - Journal of Clinical and Diagnostic Research
JF - Journal of Clinical and Diagnostic Research
IS - 4
ER -