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 101
- Downloads 0
A Study to Assess Awareness and Attitudes of Teachers towards Primary School Children with Stuttering in Dakshina Kannada District, India
ABSTRACT Introduction: Stuttering, a fluency disorder causes a negative impact on an individual’s educational, occupational, and social experiences. Based on the review of the previous literatures it was found that the s...
Comparison of the Effect of Fluoride Varnish, Chlorhexidine Varnish and Casein Phosphopeptide- Amorphous Calcium Phosphate (CPP-ACP) Varnish on Salivary Streptococcus mutans Level: A Six Month Clinical Study
Introduction: Dental caries is the most widespread disease which has a multi factorial origin. Streptococcus mutans is considered to be the chief pathogen in its development. Different varnishes are available which can b...
FNAC is a Boon for Salivary Gland Lesions: A Routine Diagnostic Experience among Rural Population
ABSTRACT Introduction: Salivary gland comprises of major and minor salivary glands. FNAC is a diagnostic method based on morphologic findings of individuals and group of cells. FNAC is accepted as an excellent investigat...
Serum Free T3 to Free T4 Ratio as a Useful Indicator for Differentiating Destruction Induced Thyrotoxicosis from Graves' Disease
Introduction: Thyrotoxicosis is a common disease encountered in Endocrine Outpatient Department (OPD). Two common causes of thyrotoxicosis are Destruction Induced Thyrotoxicosis (DIT) and Graves’ Disease (GD). Differenti...
Protein Creatinine Index: An Alternative for Screening Nephropathy in Hypertensives
ABSTRACT Introduction: The 24 hour urinary protein estimation is the gold standard for detecting proteinuria and nephropathy in hypertensives. But, it’s a time-consuming and inconvenient process. Aim: To analyse the util...