Methylmalonic Acidemia (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. The effects of MMA vary from mild to life threatening and it usually presents in early infancy. Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive. The emergency treatment of the newborn wit...

we encountered a patient with methylmalonic aciduria associated with skin lesions resembling acrodermatitis enteropathica. this child was being fed with a low-protein diet when the skin disorder developed. a deficiency in plasma levels isoleucine, was confirmed. supplementation of a high-caloric, protein-rich diet led to a prompt improvement of skin lesions. we assume that in our patient the sk...

Methylmalonic acid concentrations are increased in serum in vitamin B12 (cobalamin) deficiency. Here I demonstrate the successful use of anion-exchange extraction for improving newly developed analytical procedures and describe well-documented, reliable performance of this method for rapid determination of methylmalonic acid. The sorbent counter ion is formate, and the elution solvent is formic...

Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC...

SUMMARY Methylmalonic acidemia is an inborn disorder of amino acid metabolism that commonly presents with neurologic deficits. We present the results of multi-slice proton MR spectroscopy and diffusion-weighted imaging of the brain in two patients with methylmalonic acidemia. The findings consisted of restricted diffusion and elevated lactate in the globi pallidi, compatible with acute infarcti...

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Methylmalonic aciduria is an inborn error in the organic acids metabolism. Deficiency of methylmalonyl CoA mutase or its coenzyme, adenosylcobalamine, leads to accumulation of methymalonic acid in body fluids. The disease manifests with recurrent episodes of dehydration, metabolic acidosis, coma and death. We report a case of methylmalonic aciduria diagnosed in a female infant who presented wit...

introduction: methylmalonic acidemia (mma) is a metabolic disorder and especial nutritional support has an important role in improvement of growth and development in these patients. case presentation: a 3-month old female infant with known mma was admitted to emergency department of dr sheikh children hospital with primary diagnosis of pneumonia and sepsis .this patient was a full term baby; mm...

BACKGROUND Urinary organic acids are water-soluble intermediates and end products of the metabolism of amino acids, carbohydrates, lipids, and a number of other metabolic processes. In the hereditary diseases known as organic acidurias, an enzyme or co-factor defect in a metabolic pathway leads to the accumulation and increased excretion of one or more of these acidic metabolites. Gas chromatog...