Article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Orphanet journal of rare diseases - 9 Jul 2013
Marcadier Julien L, Smith Amanda M, Pohl Daniela, Schwartzentruber Jeremy, Al-Dirbashi Osama Y, Majewski Jacek, Ferdinandusse Sacha, Wanders Ronald J A, Bulman Dennis E, Boycott Kym M, Chakraborty Pranesh, Geraghty Michael T
Abstract excerpt
BACKGROUND: Methylmalonate semialdehyde dehydrogenase (MMSDH) deficiency is a rare autosomal recessive disorder with varied metabolite abnormalities, including accumulation of 3-hydroxyisobutyric, 3-hydroxypropionic, 3-aminoisobutyric and methylmalonic acids, as well as β-alanine. Existing reports describe a highly variable clinical and biochemical phenotype, which can make diagnosis a challenge. To date, only...
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