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...

Glutaric aciduria type I is an uncommon inborn error of metabolism. It is a serious disease, often with a fatal outcome. This study reports the presence of bilateral temporal fluid collections, probably bilateral arachnoid cysts, in association with glutaric aciduria type I. The CT and, when available, MR studies from five patients with this disorder were reviewed. Four of the patients had find...

Mevalonic aciduria, a rare autosomal recessive disease, represents the most severe form of the periodic fever, known as Mevalonate Kinase Deficiency. This disease is caused by the mutation of the MVK gene, which codes for the enzyme mevalonate kinase, along the cholesterol pathway. Mevalonic aciduria patients show recurrent fever episodes with associated inflammatory symptoms, severe neurologic...

Methylmalonic aciduria is a rare disorder of organic acid metabolism with limited therapeutic options, resulting in high morbidity and mortality. Positive results from combined liver/kidney transplantation suggest, however, that metabolic sink therapy may be efficacious. Gene therapy offers a more accessible approach for the treatment of methylmalonic aciduria than organ transplantation. Accord...

BACKGROUND l-2-Hydroxyglutaric aciduria is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system. To our knowledge, only 1 complete report of the neuropathological findings in an adult has been published. OBJECTIVE To present the clinical, neuroimaging, and neuropathological findings of l-2-hydroxyglutaric aciduria. DESIGN Case report...

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...

Metabolomics has become an important tool in clinical research and diagnosis of human diseases. In this work we focused on the diagnosis of inherited metabolic disorders (IMDs) in plasma samples using a targeted metabolomic approach. The plasma samples were analyzed with the flow injection analysis method. All the experiments were performed on a QTRAP 5500 tandem mass spectrometer (AB SCIEX, U....

3-Hydroxy-3-methylglutaric aciduria was detected in a newborn. The progress of the dietary therapy for the disorder was monitored by dual-column "high-performance" liquid chromatography with a computer-controlled photodiode array spectrophotometric detector. This procedure is a quick way to detect and monitor the progress of 3-hydroxy-3-methylglutaric aciduria.

KODAMA, H., OKADA, S., INUI, K., YUTAKA, T. and YABUUCHI, H. Studies on ƒ¿-Ketoglutaric Aciduria in Type I Glycogenosis. Tohoku J. exp. Med., 1980, 131 (4), 347-353 Urinary excretion of the organic acids in patients with type I and III glycogenosis was investigated. In all patients with type I glycogenosis, urinary ƒ¿-ketoglutarate concentration was about 10 times the normal value. ƒ¿Ketoglutar...