Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.
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چکیده
منابع مشابه
Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.
We developed a radioimmunoassay to quantitate material crossreacting immunochemically with human methylmalonyl-CoA mutase (methylmalonyl-CoA CoA-carbonylmutase, EC 5.4.99.2), and have applied this assay to extracts of fibroblasts from controls and from 32 patients with methylmalonic acidemia due to inherited deficiencies in mutase activity. Four control lines had an average of 237 ng of crossre...
متن کاملMethylmalonic acidemia
The authors provide an overview of the hereditary methylmalonic acidemias, a group of metabolic disorders with varied clinical presentations. This includes the most severe form of L-methylmalonyl-CoA mutase deficiency, termed mut(o) methylmalonic acidemia, which, together with the less severe deficiencies of L-methylmalonyl-CoA mutase, are the most common causes of methylmalonic acidemia. They ...
متن کاملCT and MR studies of methylmalonic acidemia.
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...
متن کاملMethylmalonic Acidemia.
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...
متن کاملGrowth hormone therapy in neonatal patients with methylmalonic acidemia.
BACKGROUND Information regarding growth hormone (GH) therapy in neonatal patients with methylmalonic academia (MMA) is lacking. We present our experience with GH therapy in neonatal patients with MMA. METHODS Four neonatal patients with mut 0 type MMA were identified through newborn screening for elevated propionylcarnitine (C3) levels. GH therapy (0.6 IU/kg/week, subcutaneously) was prescrib...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1981
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.78.12.7737