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Argininosuccinate lyase deficiency

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

 Max Magnitude
rs1451389238
rs289402868
rs289402878
rs289405858
rs289414728
rs289414738
rs3675430058
rs3675430068
rs3743043048
rs3981231268

From: GeneReviews:

Deficiency of argininosuccinate lyase (ASL), the enzyme that cleaves argininosuccinic acid to produce arginine and fumarate in the fourth step of the urea cycle, is characterized by a severe neonatal onset form and a late onset form.

The severe neonatal onset form, which is indistinguishable from that of other urea cycle disorders, is characterized by hyperammonemia within the first few days after birth accompanied by vomiting, lethargy, hypothermia, and poor feeding. In the absence of treatment, lethargy, seizures, and coma worsen, resulting in death.

In contrast, the late onset form ranges from episodic hyperammonemia triggered by acute infection or stress to cognitive impairment, behavioral abnormalities, and/or learning disabilities in the absence of any documented episodes of hyperammonemia.

Both forms of ASL deficiency are caused by recessively inherited mutations in the ASL gene.

Note: Many hospitals include ASL deficiency tests in their newborn screening program.