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[Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)]
Klinische Wochenschrift
|January 15, 1977
Summary
Congenital methylmalonic aciduria (MMA) is an inherited metabolic disorder with four biochemical defects. Diagnosis involves measuring methylmalonic acid and enzyme activity, with prenatal testing available.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Context:
- Congenital methylmalonic aciduria (MMA) is an autosomal recessive metabolic disorder.
- It involves a block in the propionyl-CoA to succinyl-CoA catabolic pathway.
- Four distinct enzymatic defects are recognized, leading to different forms of MMA.
Purpose:
- To outline the biochemical basis of congenital methylmalonic aciduria.
- To describe the clinical manifestations, diagnostic methods, and therapeutic strategies.
- To differentiate between vitamin B12-dependent and independent forms of MMA.
Summary:
- MMA presents in early infancy with symptoms like anorexia, vomiting, hypotonia, and metabolic acidosis.
- Diagnosis relies on methylmalonic acid levels and enzyme assays, with prenatal diagnosis possible.
- Treatment varies: protein restriction for non-B12-dependent MMA and high-dose vitamin B12 for B12-dependent forms.
Impact:
- Understanding the enzymatic defects aids in accurate diagnosis and targeted therapy.
- Early diagnosis and appropriate treatment are crucial for managing this metabolic disorder.
- Further research is needed to clarify long-term prognosis and developmental outcomes in treated children.