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GENATLAS PHENOTYPE

last update : 13/10/2006

Symbol	ADSLD
Location	22q13.1
Name	adenylosuccinate lyase deficiency
Other name(s)	mental retardation, severe, with autistic features and succinylpurinemia ADSL deficiency
Corresponding gene	ADSL
Main clinical features	progressive neonatal encephalopathy and seizures, severe psychomotor delay and autism, characterised by the accumulation of SAICAriboside (SAICAr) and succinyladenosine (S-Ado) in body fluids behavioural profile mimicking Angeman syndrome in some patients
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	psychiatric disorder
	metabolism/purine or pyrimidine
Type	disease

Gene product

Name	adenylosuccinate lyase (ADSL)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types			compound heterozygozity

Remark(s)