کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4142477 | 1272375 | 2010 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Déficit de succÃnico semialdehÃdo deshidrogenasa. Disminución de los niveles de 4 OH butÃrico con dosis bajas de vigabatrina
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Déficit de succÃnico semialdehÃdo deshidrogenasa. Disminución de los niveles de 4 OH butÃrico con dosis bajas de vigabatrina Déficit de succÃnico semialdehÃdo deshidrogenasa. Disminución de los niveles de 4 OH butÃrico con dosis bajas de vigabatrina](/preview/png/4142477.png)
چکیده انگلیسی
Succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria) is a rare neurometabolic disease caused by a deficiency in gamma-aminobutyric degradation, resulting in an increase in gamma-hydroxybutyric acid in biological fluids. The clinical spectrum is heterogeneous, including a variety of neurological manifestations and psychiatric symptoms. The treatment usually used is vigabatrin, but its clinical efficacy is under discussion. We present two affected siblings. The older brother was examined when he was 2.5 years old due to psychomotor and developmental delay, disturbances in motor coordination, axial hypotonia and language disability. His younger brother had mild axial hypotonia when 5 months old. Metabolic studies demonstrated a high plasma and urine concentration of gamma-hydroxybutyric acid. Mutation analysis of the gene ALDH5A1 confirmed the disease. After 1 year of treatment with low-doses of vigabatrin of the older patient, a decrease in gamma-hydroxybutyric acid plasma levels and a slow clinical improvement were observed.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Anales de PediatrÃa - Volume 72, Issue 2, February 2010, Pages 128-132
Journal: Anales de PediatrÃa - Volume 72, Issue 2, February 2010, Pages 128-132
نویسندگان
G. Iglesias Escalera, I. Ferrer, Ll. Carrasco Marina, P. Ruiz Sala, G.S. Salomons, C. Jakobs, C. Pérez-Cerdá,