A novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia

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 leprech...

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Bibliographic Details
Published in:	Paediatrics and international child health Vol. 32; no. 3; pp. 183 - 185
Main Authors:	Baqir, Zaineb S, Al-Lawati, Tawfiq T, Al Hussaini, Saniya O, Al-Sinani, Aisha, Al-Said, Khoula, Al-Rashdi, Ismail
Format:	Journal Article
Language:	English
Published:	London Taylor & Francis 01-08-2012 Maney
Subjects:	Arab population Arabs Biological and medical sciences Complex syndromes Donohue Syndrome - diagnosis Gene mutation General aspects Humans Hypoglycemia - etiology Infant Leprechaunism Male Medical genetics Medical sciences Middle East Mutation, Missense Receptor, Insulin - genetics Middle East Endocrinopathy Human Pediatrics Diseases of the osteoarticular system Metabolic diseases Infant Hypoglycemia Insulin Genetic disease Dwarfism Target tissue resistance Tropical medicine Mutation Complex syndrome Leprechaunism
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	2046-9047 2046-9055
DOI:	10.1179/2046905512Y.0000000004