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
Molecular Diversity of Hepatitis B Virus X Gene in Central Kerala, Southern India
ABSTRACT Introduction: Hepatitis B Virus (HBV) causes diverse clinical manifestations ranging from acute fulminant Hepatitis, Chronic Hepatitis (CHB) to liver cirrhosis and Haepatocellular Carcinoma (HCC). The HBV X gene...
Validity and Reproducibility of Digital Models Obtained by Cone Beam Computed Tomography Imaging
ABSTRACT Introduction: Impression making and fabrication of plaster models serve as a basis for documentation, diagnosis and treatment planning. Model analysis is used routinely in orthodontics and is a key factor for tr...
Reliability and Validity of the Indian (Telugu) Version of the Shoulder Pain and Disability Index
ABSTRACT Introduction: The Shoulder Pain and Disability Index (SPADI) is one of the most commonly used shoulder specific self report questionnaires that is available to evaluate patients with shoulder pathology but it ha...
Apolipoproteins an Early and Better Diagnostic Marker for Diabetic Retinopathy
Introduction: Diabetic Retinopathy (DR) is one of the most common microvascular complications of diabetes and is the leading cause of blindness and visual impairment worldwide. Dyslipidemia is the major biochemical alter...
Effects of Tamoxifen-Loaded Solid Lipid Nanoparticles on Kidney and Liver of Female Ovariectomized Rats
Introduction: Tamoxifen (TMX) has harmful dose-dependent long-term side effects such as liquid retention in postmenopausal breast cancer patients. Although, encapsulation of low-dose TMX in colloidal delivery systems hav...