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Adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency Causes

It is still unclear whether ASLD and the pathological mechanisms are brought about by purine deficiency, perturbation of the pathway or toxicity of intermediates.

Adenylosuccinate lyase deficiency Definition

Adenylosuccinate lyase deficiency is a type of disorder of the purine metabolism that affects patients both behaviorally and biochemically. Patients afflicted with this disorder normally have autistic features and display some mild psychomotor delays.

Adenylosuccinate lyase deficiency Diagnosis

Diagnostic tests for ADSL are usually based on the presence in cerebospinal fluid and urine samples that appear to contain AICA-riboside and S-Ado.

Adenylosuccinate lyase deficiency Symptoms and Signs

The signs, symptoms as well as the physical findings that are associated with ASLD greatly differ from one case to case. As a rule, most patients suffering from ASLD usually present with certain mix of neurological symptoms that include some of the following: autistic features, psychomotor retardation, epilepsy, muscle wasting as well as secondary feeding problems. While abnormal features may not be common, it can possibly occur including small head circumference, severe growth failure, flat occiput and low set ears, among others.

Adenylosuccinate lyase deficiency Treatment

Several patients, those that present early epilepsy usually die in infancy. Other patients, predominantly those with higher S-Ado/SAICA-riboside ratios tend to fare relatively well and usually reach adult age. The aim of the treatment is to replenish the decreased concentrations of adenine nucleotides in ADSL-deficient tissues. Some of these patients are treated with oral adenine for several months. More recently, there have been reports that the oral administration of D-ribose has effectively reduced frequency of seizure attacks as well as improve behavior.

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