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Recent advances in the inherited methylmalonic acidemias
1Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut.
Acta Paediatrica Scandinavica
|September 1, 1987
Summary
Methylmalonic acidemia, a genetic disorder, stems from reduced methylmalonyl-CoA mutase activity, impacting amino acid breakdown. Treatment involves diet and vitamin B12 for responsive cases.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Methylmalonic acidemia is caused by deficient methylmalonyl-CoA mutase activity.
- This enzyme is crucial for the catabolism of specific amino acids.
- Cobalamin (vitamin B12) acts as an essential coenzyme for this enzyme.
Purpose of the Study:
- To summarize the genetic basis and clinical presentation of methylmalonic acidemia.
- To outline current therapeutic strategies for this metabolic disorder.
Main Methods:
- Review of existing literature on methylmalonic acidemia.
- Analysis of identified mutations in the methylmalonyl-CoA mutase apoenzyme and cobalamin synthesis pathways.
Main Results:
- Inherited mutations affecting the apoenzyme or coenzyme synthesis lead to methylmalonic acidemia.
- The clinical spectrum ranges from severe protein intolerance to various other symptoms.
- Cobalamin responsiveness is a key factor in treatment selection.
Conclusions:
- Methylmalonic acidemia is a serious inherited metabolic disorder.
- Effective management requires strict dietary control.
- Vitamin B12 supplementation is beneficial for cobalamin-responsive individuals.