Abetalipoproteinemia : a novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient
Joint Authors
Barakizou, Hager
Gannouni, Suha
Messaoui, Khalil
Difilippo, Mathilde
Sassolas, Agnes
Bayoudh, Fathi
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 17, Issue 3 (31 Jul. 2016), pp.251-254, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2016-07-31
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Pharmacy, Health & Medical Sciences
Abstract EN
Abetalipoproteinemia (ABL), or Bassen–Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia, retinitis pigmentosa, progressive neuropathy and acanthocytosis.
We report the case of a Tunisian male child born from consanguineous marriage.
He presented at the age of 4 months with failure to thrive, greasy stool and vomiting.
His clinical phenotype and serum lipid profile suggested the diagnosis of ABL.
The MTP gene analysis revealed a novel homozygous mutation [c.2313-2314delinsAA (p.771Tyr>x)].
The parents were heterozygous for the same mutation.
American Psychological Association (APA)
Barakizou, Hager& Gannouni, Suha& Messaoui, Khalil& Difilippo, Mathilde& Sassolas, Agnes& Bayoudh, Fathi. 2016. Abetalipoproteinemia : a novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient. The Egyptian Journal of Medical Human Genetics،Vol. 17, no. 3, pp.251-254.
https://search.emarefa.net/detail/BIM-733810
Modern Language Association (MLA)
Barakizou, Hager…[et al.]. Abetalipoproteinemia : a novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient. The Egyptian Journal of Medical Human Genetics Vol. 17, no. 3 (Jul. 2016), pp.251-254.
https://search.emarefa.net/detail/BIM-733810
American Medical Association (AMA)
Barakizou, Hager& Gannouni, Suha& Messaoui, Khalil& Difilippo, Mathilde& Sassolas, Agnes& Bayoudh, Fathi. Abetalipoproteinemia : a novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient. The Egyptian Journal of Medical Human Genetics. 2016. Vol. 17, no. 3, pp.251-254.
https://search.emarefa.net/detail/BIM-733810
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 253-254
Record ID
BIM-733810