Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.

Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mutations in 21 Indian mut MMA patients by direct sequencing. Sequence analysis identified a total of 70 mutations in exon 2, 9, 11 and 12 of MUT gene.

Liquid-Liquid Extraction and Solid Phase Extraction for Urinary Organic Acids: A Comparative Study from a Resource Constraint Setting.

Pre analytical process of extraction for accurate detection of organic acids is a crucial step in diagnosis of organic acidemias by GCMS analysis. This process is accomplished either by solid phase extraction (SPE) or by liquid-liquid extraction (LLE). Both extraction procedures are used in different metabolic laboratories all over the world.

Urinary organic acids quantitated in a healthy north Indian pediatric population.

Human urine gives evidence of the metabolism in the body and contains numerous organic acids and other compounds at a variety of concentration. The concentration of organic acids in urine varies from population to population due to genotype, food habits and other epigenetic and environmental influences. Knowledge of the reference values for urinary organic acids in a healthy pediatric population is very important for critical evaluation.

To ascertain the utility of urinary methyl malonic Acid as a potential marker of ischemic heart failure.

Background: Methyl Malonic Acid (MMA) is known to be an integral component of the cascade of events in mitochondrial energy metabolism and since heart failure involves energy pathways, it is probable that levels of MMA could be used as a reliable biomarker to objectively identify the disease during the early stages and help in prognostication.

Materials And Methods: The present study was envisaged to evaluate the relation between urinary MMA levels in patients with Ischemic heart disease and in those progressing to failure. The relationship between the severity of the disease and the level of MMA in urine were also evaluated.