The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency and have respectively carried mutations of the SLC25A13 gene including [c.851-854delGTAT+c.851-854delGTAT]
The clinical and biochemical course in variant forms of ASL deficiency is associated with relevant residual levels of ASL activity as well as instability of mutant ASL proteins.
Data show that in patients with Argininosuccinate lyase deficiency the ASl gene is subject to several mutations the majority are missense; some more frequent then others.
Cox regression analysis showed that ASL is an independent prognostic marker for HCC. Therefore reduced ASL expression may be a novel maker for poor prognosis in HCC patients
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator); MDR analysis provided evidence of interaction between the genes for ASS1 and SLC25A13 on the risk of CL/P.
a novel ASL pseudogene located in the centromeric region of chromosome 7 14 novel mutations in the ASL gene and a novel intronic polymorphism found in a cohort of Italian patients with argininosuccinic aciduria
This unique mutation causes an elongation of fifty amino acids in the C-terminal region of the ASL protein and is likely related to a milder phenotype compared with previously reported mutations.
argininosuccinic aciduria patients of different ethnic backgrounds who are characterized by residual activity of argininosuccinate lyase and who present with less severe clinical courses.
Complementation can occur at the ASL locus between thermolabile mutants and stable mutants by stabilization of the active oligomeric form of the hybrid enzyme which may be sufficiently stable for catalysis to occur.
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