Sibling Screening of a Case of Pyroglutamic Aciduria Resulting in Normal Development- A Case Report
Journal Title: Journal of Clinical and Diagnostic Research - Year 2018, Vol 12, Issue 4
Abstract
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.
Authors and Affiliations
Nalini Bhaskaranand, Saritha U Kamath
Keywords
Related Articles
- EP ID EP523901
- DOI 10.7860/JCDR/2018/35400.11405
- Views 119
- Downloads 0
A Comparative Study to Assess the Predictability of Different IOL Power Calculation Formulas in Eyes of Short and Long Axial Length
Introduction: Accurate Intraocular Lens (IOL) power calculation in cataract surgery is very important for providing postoperative precise vision. Selection of most appropriate formula is difficult in high myopic and hype...
Complete Response after Neoadjuvant Therapy in Rectal Cancer- Does T0 Mean N0?
Introduction: Rectal resection after neoadjuvant chemoradiotherapy is the standard of care for rectal cancer. Non-operative management of rectal cancer is the new frontier. Selection of these patients is based on the abs...
Prevention of Severe Tongue Biting in a Mentally Challenged Patient: A Clinical Report
ABSTRACT Orofacial dysfunctions and habits are the main factors which influence the development of malocclusion and perioral disease. In this context, Orthodontics, a field of Dentistry, is closely associated with the d...
Periosteum Transposition Technique for Coverage of Exposed Root Surface
ABSTRACT Coverage of exposed root surface should be evaluated not only by the amount of exposed root coverage, but also by the reduced risk of donor site recession, minimal secondary intension healing and improved colour...
Utility of DxH 800 VCS Parameters and Lymph Index in Predicting Dengue
Abstract Introduction: Dengue is an acute febrile illness where high fever is accompanied by headache, arthralgia and myalgia. Volume, Conductivity and Scatter (VCS) positional parameters have been reported to be useful...