Two forms of ASL deficiency have been recognized: an early-onset, or malignant, type and a late-onset type. Onset of symptoms of early-onset argininosuccinic aciduria occurs in the first weeks of life. Features include mental and physical retardation, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red. The late-onset type of ASL deficiency is characterized by residual enzyme activity as measured by the incorporation of C-14-citrulline into proteins. Symptoms include relatively mild clinical symptoms, variable age of onset, marked argininosuccinic aciduria, and severe, but not complete, deficiency of argininosuccinate lyase. Early treatment of partial argininosuccinate lyase deficiency with arginine supplementation can result in normal intellectual and psychomotor development.
Sequencing of the ASL gene is recommended after a biochemical analysis consistent with ASL deficiency, and provides a complementary method to confirm the presence of mutations in a proband, identify carriers among the proband's relatives, and provide prenatal diagnosis in families with known mutations.
Click here for the OMIM summary on this condition.
- Confirmation of a clinical/biochemical diagnosis of ASL deficiency.
- Carrier testing in adults with a family history of ASL deficiency.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) or ACD (yellow top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
Sequence analysis is required before deletion/duplication analysis by targeted CGH array. If sequencing is performed outside of Emory Genetics Laboratory, please submit a copy of the sequencing report with the test requisition.