Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
نویسندگان
چکیده
منابع مشابه
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
Adenylosuccinate lyase deficiency (MIM 103050, ADSL) is a rare autosomal recessive disease causing severe mental retardation and/or autistic features. 2 Seizures are often observed (80%), varying in age of onset (from newborn to late childhood) and nature (tonic-clonic, “suppression burst” pattern, West syndrome, etc), and are very often resistant to all medication. Around 50% of the children s...
متن کاملClinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
Adenylosuccinate lyase (ADSL) deficiency (MIM 103050) is an autosomal recessive inborn error of purine synthesis characterized by the accumulation in body fluids of succinylaminoimidazolecarboxamide (SAICA) riboside and succinyladenosine (S-Ado), the dephosphorylated derivatives of the two substrates of the enzyme. Because ADSL-deficient patients display widely variable degrees of psychomotor r...
متن کاملPrevalence of adenylosuccinate lyase deficiency based on aggregated exome data
We readwith great interest the recent paper byDonti et al. [1] on the diagnosis of adenylosuccinate lyase deficiency via plasma metabolomics. In their Supplementary Table S3, the authors provide the allele frequency for previously reported ADSLmutations. Based on this data, and adding the allele frequency of other pathogenic variants, one can estimate the minimal prevalence of the disease. The ...
متن کاملThe kinetics of adenylosuccinate lyase.
Initial rate kinetics, product inhibition patterns, and equilibrium kinetics all indicate that cleavage of adenylosuccinate (AMP-S) by yeast adenylosuccinate lyase proceeds primarily by a reaction in which fumarate leaves the enzyme before AMP and cannot bind to free enzyme at kinetically significant concentrations. The alternate path, in which AMP leaves first, could be detected at equilibrium...
متن کاملDiagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal recessive neurometabolic disorder that presents with a broad-spectrum of neurological and physiological symptoms. The ADSL gene produces an enzyme with binary molecular roles in de novo purine synthesis and purine nucleotide recycling. The biochemical phenotype of ADSL deficiency, accumulation of SAICAr and succinyladenosine (S-Ado) i...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.6.440