Methylmalonic Acidemia.

Association of Methylmalonic Acidemia and Erythema Nodosum

A Methylmalonic Acidemia Case Presenting with Acrodermatitis Enteropathica

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...

Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: a prospective cohort study.

OBJECTIVE (i) To determine whether clinical features and biochemical parameters help to predict survival of methylmalonic acidemia with homocystinuria; (ii) To find the cutoff values of biochemical parameters for predicting survival of methylmalonic acidemia with homocystinuria. DESIGN A prospective cohort study. SETTING A pediatric tertiary hospital in Beijing; all patients were followed u...

Development and Validation of a GC-FID Method for Diagnosis of Methylmalonic Acidemia

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...

CT and MR of the brain in disorders of the propionate and methylmalonate metabolism.

PURPOSE To present the CT and MR findings in children with propionic and methylmalonic acidemia. METHODS Twenty-three new patients with methylmalonic and 20 with propionic acidemia were examined with CT and/or MR of the brain. In total 52 CT and 55 MR studies were done. Twenty-six previously published cases were also reviewed. RESULTS The findings were similar in the two syndromes. During t...

Methylmalonic acidemia with the unusual complication of severe hyperglycemia.

We describe a case of neonatal methylmalonic acidemia with the unusual complication of severe, insulin-resistant hyperglycemia. Methylmalonic acidemia, an inherited metabolic disease affecting the catabolism of propionic acid, is manifested by persistent metabolic acidosis, urinary excretion of large amounts of methylmalonic acid, and occasionally by hypoglycemia. Severe and persistent metaboli...