Abstract Background Methylmalonic acidemia with homocystinuria is caused by a rare inborn error of vitamin B12 (cobalamin) metabolism. There are four complementation classes cobalamin defects cblC, cblD, cblF, and cblJ that responsible for combined methylmalonic homocystinuria. Case presentation We report case Pakistani family composed six children diagnosed (MMA + HCU). Mutation analysis sibli...

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 chromato...

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...

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...

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...

a clinical presentation of a metabolic disorder, often first seen in infants who present with poor feeding, vomiting, tachypnea, acidosis, hyperammonemia, ketosis, ketonuria, irritability, and convulsions or hypotonia and lethargy, findings that are otherwise suggestive of neonatal sepsis diseases with oa isovaleric and propionic acidemias, maple syrup urine disease, medium chain acyl dehydroge...

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...

Newborn screening (NBS) programs are effective measures of secondary prevention and have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias, propionic acidemia, homocystinuria, remethylation disorders neonatal vitamin B12 deficiency, report on the identification cofactor-responsive disease variants. This evaluation previously established combined multiple-tier algo...