Characterization of genotype ‐ phenotype correlations in Adenylosuccinate Lyase (ADSL) Deficiency
نویسندگان
چکیده
منابع مشابه
Clinical, 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...
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Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
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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 ...
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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...
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Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase (MK). Depending on the clinical severity, MKD may present as hyper-IgD and periodic fever syndrome (HIDS) or the more severe mevalonic aciduria (MA). We analyzed the MVK gene in 57 patients with MKD and found 39 different...
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ژورنال
عنوان ژورنال: The FASEB Journal
سال: 2009
ISSN: 0892-6638,1530-6860
DOI: 10.1096/fasebj.23.1_supplement.lb250