المؤلفون: Mohamed, Sarar, Hamad, Muddathir H., Hassan, Hamdy H., Salih, Mustafa A.

المصدر: Saudi Medical Journal; Nov2015, Vol. 36 Issue 11, p1354-1357, 4p

مصطلحات موضوعية: GLUTARIC aciduria, METABOLIC disorders, DEHYDROGENASES, DYSTONIA, DIAGNOSTIC errors, DNA analysis, PATIENTS

Abstract (English): Glutaric aciduria type 1 (GA1) is an inherited inborn error of metabolism caused by a deficiency of the enzyme glutaryl Co-A dehydrogenase (GCDH). Here, we report a 14-month-old Saudi boy with GA1 who presented with severe dystonia and was misdiagnosed as cerebral palsy (CP). He presented to our institute with encephalopathy following an episode of gastroenteritis. His physical examination showed dystonia and spastic quadriplegia. His investigations revealed elevated both urinary 3-hydroxy glutaric acid, and serum glutarylcarnitine. The DNA analysis confirmed homozygosity for a mutation in the GCDH-coding gene (c.482G>A;p.R161Q). This case alerts pediatricians to consider GA1 as a differential diagnosis of children presenting with dystonic CP. [ABSTRACT FROM AUTHOR]

Abstract (Arabic): بيلة حمض الغلوتاريك النوع 1 مرض وراثي ينتج عن نقص في أنزيم حمض الغلوتاريك نازع الهيدروجين. هنا نحن نقدم تقرير عن صبي سعودي عمره 14 شهراً يعاني من التهاب المعدة والأمعاء. وأظهر الفحص البدني الشلل الرباعي الدماغي مع خلل التوتر. التحاليل كشفت ارتفاع هيدروكسي حمض الغلوتاريك في البول مع ارتفاع القوترايل كارنتين في الدم. التحليل الجيني لإنزيم حمض الغلوتاريك نازع الهيدروجين كشف عن وجود والتي طفرة (c.482G>A;p.R161Q)والتي اثبتت إصابة الطفل ببيلة حمض الغلوتاريك النوع 1. هذه الحالة تنبه الأطباء على عدم تفويت بيلة حمض الغلوتاريك النوع 1 كسبب للشلل الدماغي مختل التوتر. [ABSTRACT FROM AUTHOR]

: Copyright of Saudi Medical Journal is the property of Saudi Medical Journal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

المؤلفون: Mohamed, Sarar, Hamad, Muddathir H, Kondkar, Altaf A, Abu-Amero, Khaled K

المصدر: Saudi Medical Journal; Oct 2015, Vol. 36 Issue 10, p1229-1232, 4p

مصطلحات موضوعية: ORNITHINE carbamoyltransferase deficiency, HYPERAMMONEMIA, HUMAN deletion mutation, INTRONS, NUCLEOTIDE sequencing, DISEASE risk factors

مستخلص: We report a 3-year-old Saudi boy with recurrent episodes of vomiting, poor feeding, and altered mental status accompanied by an intermittent mild hyperammonemia, and a large elevation of urinary orotic acid. Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous deletion at the fourth nucleotide of intron 4 (c.386+4delT) in the proband and his asymptomatic mother. This novel mutation in the OTC gene is responsible for the late-onset phenotype of OTC deficiency. [ABSTRACT FROM AUTHOR]

: Copyright of Saudi Medical Journal is the property of Saudi Medical Journal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)