Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency
نویسندگان
چکیده
منابع مشابه
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.
Adenylosuccinate lyase (ADSL) deficiency is an inherited metabolic disorder affecting predominantly the central nervous system. The disease is characterized by the accumulation of succinylaminoimidazolecarboxamide riboside and succinyladenosine (S-Ado) in tissue and body fluids. Three children presented with muscular hypotonia, psychomotor delay, behavioral abnormalities, and white matter chang...
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Three patients with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency were examined with MR imaging and proton MR spectroscopy. In two patients, both clinically normal, MR images showed a diffuse mild abnormality in signal intensity of the cerebral white matter, with multiple foci of more pronounced signal abnormality superimposed. In the third patient, who was clinically retarded and had ...
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 کاملTowards 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 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 ...
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ژورنال
عنوان ژورنال: Journal of Magnetic Resonance Imaging
سال: 2012
ISSN: 1053-1807
DOI: 10.1002/jmri.23852