Two Exon-Skipping Mutations as the Molecular Basis of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria)
نویسندگان
چکیده
منابع مشابه
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
Succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare metabolic disorder of 4-aminobutyric acid degradation, has been identified in approximately 150 patients. Affected individuals accumulate large quantities of 4-hydroxybutyric acid, a compound with a wide range of neuropharmacological activities, in physiological fluids. As a first step in beginning an investigation of the molecular ...
متن کاملThe clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
OBJECTIVES To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the differential diagnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative organic acid analysis in s...
متن کاملSuccinic Semialdehyde Dehydrogenase
The enzyme succinic semialdehyde dehydrogenase from pig brain has been 2000-fold purified by a combination of DEAE-cellulose, hydroxyapatite, and AMPSepharose chromatography. This preparation has a molecular weight of 160,000 and a specific activity of 5.3 pmol/min*mg at 25°C. The inhibition of succinic semialdehyde dehydrogenase by carbonyl compounds, i.e. P-pyridoxal and o-phthalaldehyde was ...
متن کاملHead bobbing due to succinic semialdehyde dehydrogenase deficiency.
A 9-month-old boy had a short history of “yes-yes” head bobbing (video on the Neurology Web site at www. neurology.org). Mild global delay prompted investigation. Imaging (figure, A–C), biochemical, and molecular findings (table e-1) were consistent with succinic semialdehyde dehydrogenase (SSADH) deficiency. SSADH deficiency, a -aminobutyric acid degradation disorder, may be associated with mo...
متن کاملProton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare hereditary disorder of the CNS catabolism of gamma-aminobutyric acid (GABA), leading to accumulation of the metabolite 4-hydroxybutyrate (GHB). Here the authors report on 1.5 and 3.0 T proton MR spectroscopy in a patient with SSADH deficiency. A characteristic pattern with clearly elevated GABA levels and traces of GHB was found i...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1998
ISSN: 0002-9297
DOI: 10.1086/301964