Metachromatic leukodystrophy

OMIM:250100
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease

Mutations

Gene Symbol	PSAP
Reference transcript	NM_002778.2
DNA Change	c.909+1G>A
A.A. Change
Exon/Intron	intron 8
Mutation Type	substitution
Reference	Siri L, Rossi A, Lanza F, Mazzotti R, Costa A, Stroppiano M, Gaiero A, Cohen A, Biancheri R, Filocamo M.A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers. Neurogenetics. 2014 Jan 31. [Epub ahead of print]

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