Abetalipoproteinemia in a Saudi Infant | [Journal of College of Physicians and Surgeons--Pakistan : JCPSP • 2011]

Author(s):

1. Muhammad Rafique: Department of Paediatrics, College of Medicine, King Khalid University, Abha, Kingdom of Saudi Arabia

2. Shumaila Zia: Department of Gynaecology, College of Medicine, King Khalid University, Abha, Kingdom of Saudi Arabia

Abstract:

Abetalipoproteinemia is a rare genetic disorder. A 5-month-old Saudi boy presented with chronic diarrhoea and failure to thrive since 3 months of age. He was cachectic. His peripheral blood picture showed many acanthocytes and he had very low lipid profile. He improved on medium chain triglyceride (MCT) formula and administration of fat soluble vitamins

Page(s): 117-118

DOI: DOI not available

Published: Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 21, Issue: 2, Year: 2011

Keywords:

Abetalipoproteinemia Infant Saudi Chronic diarrhoea Failure to thrive

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