Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Synonyms: Developmental delay due to ALDH6A1 deficiency | Developmental delay due to MMSDH deficiency

A rare genetic inborn error of branched-chain amino acid metabolism disorder with a highly variable clinical and biochemical phenotype typically characterized by mild to severe global developmental delay elevated methylmalonic acid and occasionally lactic acid plasma levels and chronic methylmalonic aciduria which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine methionine 3-hydroxypropionic 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly mild craniofacial dysmorphism axial hypotonia liver failure and central nervous system abnormalities on MRI have also been reported.