Useful Links

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.
Phone: 020 566 5958 / 2427 
Fax: 020 696 2596

Equity Pharmaceuticals is the prescription product division of Clinigen South Africa.

Our core range of essential medicines is used to meet an ever-expanding mix of medical needs in a variety of therapeutic areas. Equity Pharmaceuticals currently has niche products in the following therapeutic areas: Gastroenterology, Substance, Abuse, Allergy, Cardiology, Anaphylaxis, Analgesia/Anesthesia, Anti-infective, Endocrinology, ENT, Intensive care, Metabolic disease, Neurology, Oncology, Orphan Drugs, Transplantation and Toxicology. Equity Pharmaceuticals supports Pharmacists and Physicians by sourcing and supplying Section 21 medicines both locally and internationally. We also specialize in products for the treatment of ulcerative colitis and for the symptomatic treatment of bowel spasms and bloating in irritable bowel syndrome as well as products assisting with the treatment of opiate narcotic addiction.
Phone: 012 345 1747 /
012 345 3175
Fax: 012 345 1412 

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.
Phone: 012 322 0604 
Fax: 012 322 5354 /

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.
Phone: 011 386 6000 
Fax: 011 386 6620

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.

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.
Phone: 087 350 2329
200 Constantia Drive Constantie Kloof 

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 Africamay be able to provide emotional, physical and financial assistance to families in need.

Dr. Tuschka Reynders. Specialist ketogenic and metabolic pediatric dietitian.  Dr. Reynders can also provide therapeutic L-carnitine and L-Glycine. 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
54 Manyeleti street, Meadow Heights, Moreleta park

Genetic Alliance South Africa (GA-SA) is a non-profit, membership organisation uniting patient support groups, healthcare professionals and other stakeholders relevant to the care and prevention of congenital disorders (CDs). GA-SA is both a registered Non Profit Organisation (NPO# 001-029) and a Public Benefit Organisation (PBO# 930060116).

Block 7 Stratford Office Park, Valley Road, Broadacres

Phone – 010 594 3844

Ask a genetic nurse is an online resource hub for South Africans about the relationship between genetics and health. was founded by Noelene Kinsley and Suretha Erasmus, two genetic counsellors in private practice in South Africa. The site showcases the clinical genetic services offered in South Africa and explains their value.

The Association for Dietetics in South Africa (ADSA) is the professional organisation for Registered Dietitians. The primary aims of the Association are to serve the interests of Dietitians in South Africa and promote the nutritional well-being of the community.

ADSA’s VISION: To represent and develop the dietetic profession to contribute towards achieving optimal nutrition for all South Africans.

ADSA’s MISSION: As the registered professionals in the field of dietetics and nutrition we support and promote the continued growth of the profession of dietetics in South Africa.

Telephone: (011) 061 5000


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