A distinct phenotype of mevalonic acidemia with absence of pathogenic mutations of mevalonate kinase gene
Other Title(s)
نمط ظاهري متميز لبيلة الميفالونيك مصاحبه بعدم وجود طفرات مرضيه في جين ميفالونات كيناز
Parallel Title
نمط ظاهري متميز لبيلة الميفالونيك مصاحبه بعدم وجود طفرات مرضيه في جين ميفالونات كيناز
Joint Authors
Duwaykat, Imad
Damsih, Nadirah
Nasir, Inas
Source
An-Najah University Journal for Research-A : Natural Sciences
Issue
Vol. 30, Issue 1 (30 Jun. 2016), pp.71-80, 10 p.
Publisher
An-Najah National University Deanship of Scientific Research
Publication Date
2016-06-30
Country of Publication
Palestine (West Bank)
No. of Pages
10
Main Subjects
Abstract AR
تبين الحالتان الموصوفتان أعراضا فريدة لمرض وراثي نادر يسمى (مرض ارتفاع الحمض الميفالوني (بيلة الميفالونيك).
المريضان لم يشكوا من ارتفاع متكرر في درجات الحرارة الذي يميز مرض ارتفاع الحمض الميفالوني الناتج من نقص أنزيم ميفالونات كيناز، و بفحص الجين المسبب للمرض لم يثبت وجود طفرة ؛ مما يؤشر لضرورة عمل فحص جينات متطور ؛ لمعرفة الطفرات النادرة للمرض، و قد تكون هذه الأعراض مؤشرا لمعرفة مرض جديد.
Abstract EN
Mevalonic aciduria is an autosomal recessive disorder caused by deficiency of mevalonate kinase and characterized by recurrent febrile crisis, ophthalmic and neurological manifestations.
We report two brothers with mevalonic aciduria characterized clinically by severe failure to thrive, psychomotor retardation, dysmorphic features, retinitis pigmentosa and hypoplastic genitalia.
Recurrent episodes of fever, a characteristic feature of mevalonic aciduria due to deficiency of mevalonate kinase enzyme was absent.
Both patients excreted moderate amounts of mevalonic acid.
Molecular analysis of MVK gene showed no abnormalities and plasma 7-dehydrocholesterol and serum immunoglobulin D were normal.
This phenotype-genotype association has not been described in previous reports and future molecular genetic studies are required to know the full spectrum of disorders of the mevalonate pathway.
American Psychological Association (APA)
Duwaykat, Imad& Damsih, Nadirah& Nasir, Inas. 2016. A distinct phenotype of mevalonic acidemia with absence of pathogenic mutations of mevalonate kinase gene. An-Najah University Journal for Research-A : Natural Sciences،Vol. 30, no. 1, pp.71-80.
https://search.emarefa.net/detail/BIM-819627
Modern Language Association (MLA)
Duwaykat, Imad…[et al.]. A distinct phenotype of mevalonic acidemia with absence of pathogenic mutations of mevalonate kinase gene. An-Najah University Journal for Research-A : Natural Sciences Vol. 30, no. 1 (2016), pp.71-80.
https://search.emarefa.net/detail/BIM-819627
American Medical Association (AMA)
Duwaykat, Imad& Damsih, Nadirah& Nasir, Inas. A distinct phenotype of mevalonic acidemia with absence of pathogenic mutations of mevalonate kinase gene. An-Najah University Journal for Research-A : Natural Sciences. 2016. Vol. 30, no. 1, pp.71-80.
https://search.emarefa.net/detail/BIM-819627
Data Type
Journal Articles
Language
English
Notes
Includes Appendices : p. 79-80
Record ID
BIM-819627