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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency?
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Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
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