PREVALENCE, EPIDEMIOLOGY AND CLINICAL STUDY OF GALACTOSEMIA
Uzma Saleem, Mahmood S., Kamran S.H, Mutt M.A, Ahmad B
1 College of Pharmacy, G.C.University, Faisalabad, Pakistan. 2 Lahore General Hospital, Lahore, Pakistan. 3 University College of Pharmacy, University of the Punjab, Lahore, Pakistan.
Keywords: Galactosemia, carbohydrate metabolic disorder, GALT
Abstract

Galactosemia is an autosomal carbohydrate metabolic disorder caused by the deficiency of galactose 1-phosphate uridyltransferase (GALT). Frequency of occurrence of this disorder varies, more common in Irish population and very less in Asians. There are three types of galactosemia but GALT is most common. The prominent sign and symptoms include hypoglycemia, hepatomegaly, ascities, jaundice, poor feeding and vomiting. Cataracts, premature ovarian failure, decreases in bone mineral density, mental retardation are few of the long term complications. Symptoms appear within first few days of galactosemic infants. Strict dietary control (i.e. galactose free diet) can prevent acute toxicity but it does not guarantee the prevention of long term complications. The only treatment is complete elimination of galactose/lactose free diet and calcium supplements are used as supportive therapy.

Article Information

Identifiers and Pagination:
Year:2012
Volume:4
First Page:38
Last Page:44
Publisher Id:JAppPharm (2012 ). 4. 38-44
Article History:
Received:October 18, 2011
Accepted:December 7, 2011
Collection year:2011
First Published:January 10, 2012


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Prof. Dr. Cornelia M. Keck (Philipps-Universität Marburg)
Marburg, Germany

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Welcome to the research group of Prof. Dr. Cornelia M. Keck in Marburg. Cornelia M. Keck is a pharmacist and obtained her PhD in 2006 from the Freie Universität (FU) in Berlin. In 2009 she was appointed as Adjunct Professor for Pharmaceutical and Nutritional Nanotechnology at the University Putra Malaysia (UPM) and in 2011 she obtained her Venia legendi (Habilitation) at the Freie Universität Berlin and was appointed as a Professor for Pharmacology and Pharmaceutics at the University of Applied Sciences Kaiserslautern. Since 2016 she is Professor of Pharmaceutics and Biopharmaceutics at the Philipps-Universität Marburg. Her field of research is the development and characterization of innovative nanocarriers for improved delivery of poorly soluble actives for healthcare and cosmetics. Prof. Keck is executive board member of the German Association of Nanotechnology (Deutscher Verband Nanotechnologie), Vize-chairman of the unit „Dermocosmetics“ at the German Society of Dermopharmacy, active member in many pharmaceutical societies and member of the BfR Committee for Cosmetics at the Federal Institute for Risk Assessment (BfR).

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