A Distinct Phenotype of Mevalonic Acidemia with Absence of Pathogenic Mutations of Mevalonate Kinase Gene
Authors:
Article info
2014-07-16
2015-03-11
2016-03-03
71 - 80
Keywords
- retinitis pigmentosa.
- mevalonate kinase
- dysmorphic features
- mevalonic aciduria
Abstract
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.
Dweikat, I., Damsa, N., & Naser, E. (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), 30(1), 71–80. https://doi.org/10.35552/anujr.a.30.1.1173
[1]I. Dweikat, N. Damsa, and E. Naser, “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, Feb. 2016, doi: 10.35552/anujr.a.30.1.1173.
Dweikat, 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, Feb. 2016, pp. 71–80. Crossref, https://doi.org/10.35552/anujr.a.30.1.1173.
1.Dweikat I, Damsa N, Naser E. A Distinct Phenotype of Mevalonic Acidemia with Absence of Pathogenic Mutations of Mevalonate Kinase Gene. An-Najah University Journal for Research - A (Natural Sciences) [Internet]. 2016 Feb;30(1):71–80. Available from: http://dx.doi.org/10.35552/anujr.a.30.1.1173
Dweikat, Imad, Nadera Damsa, and Enas Naser. “A Distinct Phenotype of Mevalonic Acidemia with Absence of Pathogenic Mutations of Mevalonate Kinase Gene.” An-Najah University Journal for Research - A (Natural Sciences) 30, no. 1 (February 2016): 71–80. https://doi.org/10.35552/anujr.a.30.1.1173.
نمط ظاهري متميز لبيلة الميفالونيك مصاحبه بعدم وجود طفرات مرضيه في جين ميفالونات كيناز
المؤلفون:
معلومات المقال
2014-07-16
2015-03-11
2016-03-03
71 - 80
الكلمات الإفتتاحية
- retinitis pigmentosa.
- mevalonate kinase
- dysmorphic features
- mevalonic aciduria
الملخص
تبين الحالتان الموصوفتان أعراضًا 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، وبفحص الجين المسبب للمرض لم يثبت وجود طفرة؛ مما يؤشر لضرورة عمل فحص جينات متطور؛ لمعرفة الطفرات النادرة للمرض، وقد تكون هذه الأعراض مؤشرا لمعرفة مرض جديد.
Dweikat, I., Damsa, N., & Naser, E. (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), 30(1), 71–80. https://doi.org/10.35552/anujr.a.30.1.1173
[1]I. Dweikat, N. Damsa, and E. Naser, “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, Feb. 2016, doi: 10.35552/anujr.a.30.1.1173.
Dweikat, 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, Feb. 2016, pp. 71–80. Crossref, https://doi.org/10.35552/anujr.a.30.1.1173.
1.Dweikat I, Damsa N, Naser E. A Distinct Phenotype of Mevalonic Acidemia with Absence of Pathogenic Mutations of Mevalonate Kinase Gene. An-Najah University Journal for Research - A (Natural Sciences) [Internet]. 2016 Feb;30(1):71–80. Available from: http://dx.doi.org/10.35552/anujr.a.30.1.1173
Dweikat, Imad, Nadera Damsa, and Enas Naser. “A Distinct Phenotype of Mevalonic Acidemia with Absence of Pathogenic Mutations of Mevalonate Kinase Gene.” An-Najah University Journal for Research - A (Natural Sciences) 30, no. 1 (February 2016): 71–80. https://doi.org/10.35552/anujr.a.30.1.1173.
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