A female with x-linked ornithine transcarbamylase enzyme deficiency (case report)
Source
Journal of the Royal Medical Services
Issue
Vol. 28, Issue 1 (30 Apr. 2021), pp.91-98, 8 p.
Publisher
The Royal Medical Services Jordan Armed Forces
Publication Date
2021-04-30
Country of Publication
Jordan
No. of Pages
8
Main Subjects
Pharmacy, Health & Medical Sciences
Abstract EN
Inborn errors of metabolism (IEM) are collectively quite common disorders and they usually have an autosomal recessive inheritance pattern.
X-linked recessive diseases are less common and they affect the male gender mostly.
If a male has a mutant gene on the X chromosome, it will express a phenotype, as there is no normal allele.
On the other hand, females with a healthy allele will not express the disease.
In rare cases and due to the Lyonization phenomenon of the X chromosome in females, a mutant allele can express a disease if it lyonized over the healthy one.
In these rare cases of females affected with an X-linked recessive disease, the disease usually presents mild or intermittent.
Therefore the diagnosis would be challenging.
Our case is about a 2-year-old female with ornithine transcarbamylase (OTC) enzyme deficiency.
OTC is one of the urea cycle enzymes coded on the X chromosome and usually presents with hyperammonaemic encephalopathy.
American Psychological Association (APA)
al-Aqil, Mumin O.& Miqdadi, Nur A.& al-Masid, Mayy A.& al-Hlasi, Duaa A.& Qayam, Shahrazad M.& al-Dwari, Mushirah A.…[et al.]. 2021. A female with x-linked ornithine transcarbamylase enzyme deficiency (case report). Journal of the Royal Medical Services،Vol. 28, no. 1, pp.91-98.
https://search.emarefa.net/detail/BIM-1346463
Modern Language Association (MLA)
al-Aqil, Mumin O.…[et al.]. A female with x-linked ornithine transcarbamylase enzyme deficiency (case report). Journal of the Royal Medical Services Vol. 28, no. 1 (Apr. 2021), pp.91-98.
https://search.emarefa.net/detail/BIM-1346463
American Medical Association (AMA)
al-Aqil, Mumin O.& Miqdadi, Nur A.& al-Masid, Mayy A.& al-Hlasi, Duaa A.& Qayam, Shahrazad M.& al-Dwari, Mushirah A.…[et al.]. A female with x-linked ornithine transcarbamylase enzyme deficiency (case report). Journal of the Royal Medical Services. 2021. Vol. 28, no. 1, pp.91-98.
https://search.emarefa.net/detail/BIM-1346463
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 97-98
Record ID
BIM-1346463