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Use of human somatotrophin in the treatment of a patient with methylmalonic aciduria

✍ Scribed by M. D. Bain; S. S. Nussey; M. Jones; R. A. Chalmers

Publisher
Springer
Year
1995
Tongue
English
Weight
272 KB
Volume
154
Category
Article
ISSN
0340-6997

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## Abstract ## Background Methylmalonic aciduria is an autosomal recessive inborn error of the propionate metabolic pathway. One form of this disorder is caused by mutations in methylmalonyl‐coenzyme A mutase (MCM), resulting in reduced levels of enzyme activity. The pharmacological up‐regulation