Shopping cart
A novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia
Authors: Baqir, Zaineb S; Al-Lawati, Tawfiq T; Al Hussaini, Saniya O; Al-Sinani, Aisha; Al-Said, Khoula; Al-Rashdi, Ismail
Source: Paediatrics and International Child Health, Volume 32, Number 3, August 2012 , pp. 183-185(3)
Publisher: Maney Publishing
Abstract:
Leprechaunism is a rare autosomal recessive disorder which is usually fatal in early infancy or childhood. There is a paucity of genetic data on leprechaunism in the Arab population. A 4-month-old boy presented with jaundice, asymptomatic hypoglycaemia and growth retardation with features of leprechaunism. A novel Cys807Arg was identified, which could facilitate antenatal diagnosis for families in the Middle East.Keywords: Leprechaunism; Gene mutation; Arab population
Document Type: Case Report
DOI: http://dx.doi.org/10.1179/2046905512Y.0000000004
Affiliations: Royal Hospital, Bowsher, Muscat, Sultanate of Oman
Publication date: 2012-08-01
- In 2012 Annals of Tropical Paediatrics changed its name to Paediatrics and International Child Health to reflect changes and developments in the subject area. View the issues of Annals of Tropical Paediatrics available online.
- Editorial Board
- Information for Authors
- Submit a Paper
- Subscribe to this Title
- Information for Advertisers
- Terms & Conditions
- Top articles
- Health Science Spotlight
- Abstracted in
- ingentaconnect is not responsible for the content or availability of external websites
- In this: publication
- By this: publisher
- In this Subject: Internal Medicine , Pediatrics
- By this author: Baqir, Zaineb S ; Al-Lawati, Tawfiq T ; Al Hussaini, Saniya O ; Al-Sinani, Aisha ; Al-Said, Khoula ; Al-Rashdi, Ismail
Tools
Receive new issue alert
Latest TOC RSS Feed
Get PermissionsKey
Print this page