Sibling screening of a case of pyroglutamic aciduria resulting in normal development- A case report

Nalini Bhaskaranand, Saritha U. Kamath

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)SD05-SD06
JournalJournal of Clinical and Diagnostic Research
Volume12
Issue number4
DOIs
Publication statusPublished - 01-04-2018
Externally publishedYes

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Pyrrolidonecarboxylic Acid
Gas chromatography
Mass spectrometry
Screening
Gas Chromatography-Mass Spectrometry
Organic acids
Urine
Acidosis
Defects
Early Diagnosis
Fever
Acids
Glutathione synthetase deficiency

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry

Cite this

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Sibling screening of a case of pyroglutamic aciduria resulting in normal development- A case report. / Bhaskaranand, Nalini; Kamath, Saritha U.

In: Journal of Clinical and Diagnostic Research, Vol. 12, No. 4, 01.04.2018, p. SD05-SD06.

Research output: Contribution to journalArticle

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