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The Amino Acid and Micro-nutrient Research Institute has been studying the relationship between certain diseases and micro-nutrient deficiencies since 1997 with the goal of finding new and better ways of treating and preventing human disease, ultimately leading to their specialisation in Individualised Scientific Amino Acid Supplementation.
www.aamri.co.zaext_link
General enquiries:
Phone: 012 348 0336
info@aamri.co.za
Appointments:
Phone: 012 362 9850
org@aamri.co.za
The Laboratory Genetic Metabolic Diseases (Lab GMD) of the Academic Medical Center of the University of Amsterdam. Research, treatment and diagnosis of metabolic diseases is one of the spearheads of the Academic Medical Centre and is embedded within the Amsterdam Center for Metabolism (ACM). The Laboratory Genetic Metabolic Diseases is a combined diagnostic and research laboratory with different sections for Metabolite, Enzyme and DNA analysis. Furthermore, their laboratory houses a Metabolomics Unit for intra- and extramural contract research.
www.labgmd.nlext_link
Phone: 020 566 5958 / 2427
Fax: 020 696 2596
r.j.wanders@amc.nl
f.mvaz@amc.nl
Equity Pharma is a privately owned South African-based specialist Pharmaceutical and Medical Technology business.

Equity Pharma’s mission is to strive for excellence in the marketing and distribution of vitally important and unique specialist range of products that enhance the well-being of thousands of people in the region.
www.equitypharma.co.zaext_link
Phone: 012 345 1747 /
012 345 3175
Fax: 012 345 1412
carel@equitypharma.co.za
ehrard@equitypharma.co.za
Lehmann Nutrition Products is a Nutritional Company that firmly base its expertise on targeted scientific blood analyses that result in highly personalized nutritional solutions.
Lehmann Nutrition Products also specializes in individualised amino acid supplementation.
www.cntsa.comext_link
Phone: 012 322 0604
Fax: 012 322 5354
susan@iseek.co.za / christina@cntsa.com

University Hospitals Leuven provides quality medical and paramedical services to ambulant and hospitalized patients, at campus Gasthuisberg, Lubbeek, Pellenberg, Sint-Pieter and Sint-Rafaël. Specialising in Congenital disorders of glycosylation: Biochemical and genetic screening.

The National Health Laboratory Service (NHLS) is the largest diagnostic pathology service in South Africa with the responsibility of supporting the national and provincial health departments in the delivery of healthcare. The NHLS provides laboratory and related public health services to over 80% of the population through a national network of laboratories. Its specialised divisions include the National Institute for Communicable Diseases, National Institute for Occupational Health, National Cancer Registry and Antivenom Unit.
www.nhls.ac.zaext_link
Phone: 011 386 6000
Fax: 011 386 6620 enquiries@nhls.ac.za
Serogenetics diagnostic testing (NHLS - Johannesburg). We refer patients to NHLS Johannesburg for specific enzyme analysis. Please contact them for more information on their scope of tests
Catalogue of human genes and genetic disorders. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
Newborn screening is a special blood test for newborns. Just a few drops of blood from your baby’s heel are put onto a special test paper and sent to NBS Lab in Potchefstroom to be tested. Newborn screening finds babies who may have a hidden disorder that needs early treatment.
Nutr-e-volution is a medical food company committed to the development and distribution of medical nutritional products in South Africa. Their goal is to make medical nutrition affordable and accessible to the patients that need them. They have gone to great lengths to form international partnerships to ensure quality treatment is available and affordable.
www.nutr-e-volution.co.zaext_link
Phone: 011 704 4439 /
083 381 5144
Fax: 086 536 7181
peter@nutr-e-volution.co.za
Nutricia is a specialised healthcare division of the food company Danone, focussed exclusively on research-based scientifically-proven nutrition, developed to meet the needs of patients and individuals for whom a normal diet is not sufficient or possible.
Nutricia Advanced Medical Nutrition (Nutricia Southern Africa Pty Ltd) markets a broad range of nutritional supplements for patients with Inborn Errors of Metabolism. Click here for an overview of products available in South Africa.ext_link_wit
www.nutricia.comext_link_wit
Phone: 087 350 2329
info.southafrica@nutricia.com
200 Constantia Drive Constantie Kloof
Roodepoort
1705
The portal for rare diseases and orphan drugs. Orphanet is a database of information on rare diseases and orphan drugs for the public. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases. Orphanet includes a Professional Encyclopedia, which is expert-authored and peer-reviewed, a Patient Encyclopedia and a Directory of expert Services. This directory includes information on relevant clinics, clinical laboratories, research activities and patient organisations.
Support and Funding for specialized metabolic and genetic tests for South African patients. Due to the rarity of IEMs, specialized testing is only available in certain institutes and countries. The cost of these tests is not always covered by medical aids and can amount to thousands of dollars. This is an extreme financial as well as emotional burden for families. The rare disease society of South Africa may be able to provide emotional, physical and financial assistance to families in need.
Dr. Tuschka Reynders. Specialist ketogenic and metabolic pediatric dietitian. We strongly recommend that Dr. Tuschka Reynders is contacted for assistance in the management of the patient's medical nutritional plan. She is a registered dietician with a PhD. in Biochemistry. She specializes in epilepsy (ketogenic diet), cysticfibrosis and inborn errors of metabolism. We refer all our patients diagnosed with an inborn error ofmetabolism to Dr. Tuschka Reynders for the effective management of each specific defect (Nutritionalplan, education, supplementation and monitoring).
Phone: 082 454 3123
Fax: 086 657 1819
tuschka@vodamail.co.za
67 Zinkwaze straat
Morleta Park
Pretoria

 

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