Organic Acidurias: An Updated Review

Abstract

Organic acidurias are an important class of inherited metabolic disorders arising due to defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation. This review summarizes the current knowledge about the important organic acidurias in the Indian population. Specifically, diagnosis and principles of treatment of organic acidurias are covered. The salient features of common organic acidurias as well as their prevalence in various parts of the world are reviewed in some detail.

Inborn Errors of Metabolism and Brain Involvement - 5 Years Experience from a Tertiary Care Center in South India

“…Abnormal MRI findings were found in 11 patients including macrocephaly, cerebral atrophy and cerebral edema. Further details of this work can be seen in our paper Vaidyanathan et al, 2011). Figure 2 gives a screening test for methyl malonic acid.…”

Potential Therapeutic Targets of the Endocannabinoid System in Common Neurodegenerative Disorders and Organic Acidemias

“…Proton nuclear magnetic resonance and dinitrophenyl hydrazine tests can be also employed, although they are not conclusive of diagnosis. 20 …”

Advances in the metabolic profiling of acidic compounds in children’s urines achieved by comprehensive two-dimensional gas chromatography

“…OA is mostly associated with genetic conditions resulting in a specific step of amino acid catabolism dysfunction usually due to a deficient enzyme activity. Due to a block in the specific metabolic pathway, the resulting organic acids accumulation in biological fluids, namely blood and urine, irremediably leads to the alteration of the acid-base balance and the alteration of the pathways of the intermediary metabolism [4]. Such alterations can produce disease states that range from mild to lethal neurological involvement.…”

“…Sometimes clinical symptoms suggest a specific diagnosis that can be confirmed by routine metabolic screening tests or by more specific tests [4]. Nevertheless, gas chromatography coupled to mass spectrometry (GC-MS) remains the most used analytical technique for studying urinary organic compounds [5].…”