Adenylosuccinase deficiency

OMIM:103050
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease

Mutations

Gene Symbol	ADSL
Reference transcript	NM_000026.2
DNA Change	c.1312T>C
A.A. Change	p.Ser438Pro
Exon/Intron	exon 12
Mutation Type	substitution
Reference	Stone RL, Aimi J, Barshop BA, Jaeken J, Van den Berghe G, Zalkin H, Dixon JE.A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nat Genet. 1992 Apr;1(1):59-63.

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