Disease Information for Adenyl succinate lysate deficiency

Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Mental Deficiency Child
Mental Slowing Deteriation
Mental/motor retardation in children/signs
Psychomotor retardation
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Laboratory Tests
Abnormal Lab Findings (Non Measured)
CSF abnormal
Abnormal Lab Findings - Increased
Ammonia blood (Lab)
Arginosuccinic acid (Lab)
Citrulline, serum (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Asberger's syndrome
Mental retardation
Urea cycle/metabolic disorder
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
Pathophysiology/Urea cycle metabolic defect
Pathophysiology/Variable course subsets/severe/mild
Pathophysiology/Cytosol Enzyme Lesion
PROCESS/Metabolic/storage disorder (category)
PROCESS/Dystostosis/craniofacial (ex)
acidemia argininosuccinic, aciduria argininosuccinic, ARGININOSUCCINASE DEFICIENCY, Argininosuccinate lyase defic, Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency (disorder), ARGININOSUCCINIC ACID LYASE DEFICIENCY, argininosuccinic acidemia, argininosuccinic aciduria, Argininosuccinicaciduria, arginosuccinase deficiency, ASAL deficiency, ASL deficiency, Deficiency of argininosuccinate lyase, Deficiency of argininosuccinate lyase (disorder), Deficiency of arginosuccinase, Synonym/ASA Synthetase deficiency (citrullinemia), Synonym/ASD Metabolic disorder

Adenylosuccinate Lyase Deficiency; Adenylosuccinase Deficiency; Succinylpurinemic Autism; Disorder Subdivisions

include: Adenylosuccinate Lyase Deficiency Type I; Adenylosuccinate Lyase Deficiency Type II; Adenylosuccinate Lyase Deficiency Type III;

Adenylosuccinate Lyase Deficiency Type IV.

Discussion: Adenylosuccinate lyase deficiency (ASLD) is a rare, inherited metabolic disorder due to a lack of the enzyme adenylosuccinate lyase (ASL); The defect is characterized by the appearance of two unusual chemicals, succinylaminoimidazole carboxamide riboside (SAICA riboside) and succinyladenosine, in cerebrospinal fluid, in urine and, to a much smaller extent, in plasma; These compounds, which are never found in healthy individuals, are formed from the two natural compounds acted upon by the enzyme; The symptoms and the physical findings associated with ASLD vary greatly from case to case. As a rule, patients with ASLD present with a mix of neurological symptoms that usually will include some of the following: psychomotor retardation, autistic features, epilepsy, axial hypotonia with peripheral hypertonia, muscle wasting, and secondary feeding problems. Although abnormal physical features (dysmorphism) are not common, when they do occur they may include severe growth failure, small head circumference, brachycephaly, flat occiput, prominent metopic suture, intermittent divergent strabismus, small nose with anteverted nostrils, long and smooth philtrum, thin upper lip, and low set ears;

Adenylosuccinate lyase deficiency is categorized as a disorder of the manufacture of purine nucleotides from scratch (biosynthesis) in the body; Purine nucleotides play vital roles in the cells, particularly in the process of building up or breaking down complex body chemicals (intermediary metabolism) and in energy-transforming reactions; Moreover, they serve as building blocks of nucleic acids and thus participate in molecular mechanisms by which genetic information is stored; Just how the genetic and molecular mechanisms interact to generate the symptoms of ASLD is still debated[ NORD 2005]


External Links Related to Adenyl succinate lysate deficiency
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)