Pancytopenia in childhood can be caused by a variety of underlying diseases including hematological and non-hematological entities. Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism. No association between PKU and pancytopenia has ever been reported. We report the first case of PKU revealed by a pancytopenia at presentation. The patient was an infant girl born to healthy non-...

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...

Many inborn errors of metabolism are characterized by an increase in the concentrations of various carboxylic acids in blood and urine. For example, the metabolic disorders propionic acidemia [ 11, methylmalonic aciduria [ 2,3], maple syrup urine disease [4], isovaleric acidemia [ 41 and glutaric aciduria type II [ 5,6] show increased amounts of volatile carboxylic acids in blood or urine. Proc...

The metabolic products of propionate metabolism in man were studied by determining the pattern of isotope in the urine following the intravenous injection of [lJ%]propionate. A major peak of radioactivity not present in control subjects was found in an organic acid in two patients with propionic acidemia and a patient with methylmalonic acidemia. This labeled compound was characterized as methy...

BACKGROUND Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid (MA) and methylmalonic acid (MMA). Nearly all reported cases are caused by malonyl-CoA decarboxylase (MCD) deficiency. Most patients have metabolic acidosis, developmental delay, seizures and cardiomyopathy. CMAMMA was also described in...

Methylmalonic aciduria (MMA) is an autosomal recessive disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. It is an inborn error of organic acid metabolism which commonly results from a defect in the gene encoding the methylmalonyl-CoA mutase (MCM) apoenzyme. Here we report the results of mutation study of exon 2 of the methylmalonyl CoA mutase (MUT) gene, coding MCM residue...

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...

From June 1998 to May 2007, 9566 urine samples were collected from patients with psychomotor deficits, seizures, vomiting and unconsciousness in Peking University First Hospital. Their urine organic acids profiles were analysed using gas chromatography - mass spectrometry (GCMS), GCMS solution and Inborn Errors of Metabolism Screening System software. In all patients, blood acylcarnitines were ...

In vitamin B-12 (cobalamin) deficiency the metabolism of propionyl-CoA and methylmalonyl-CoA are inhibited secondarily to decreased L-methylmalonyl-CoA mutase activity. Production of acylcarnitines provides a mechanism for removing acyl groups and liberating CoA under conditions of impaired acyl-CoA utilization. Carnitine metabolism was studied in the vitamin B-12-deficient rat to define the re...

Methylmalonic acidemia (MMA) is a disorder of organic acid metabolism. It consists of a group of biochemically and genetically distinct disorders that produces a block in the conversion of methylmalonyi-CoA to succinyi-CoA, with consequent accumulation of methylmalonate in the blood and urine, secondary hyperammonemia, and often severe ketoacidosis [1]. Methylmalonic acid is part of the organic...