World Rare Disease Day – Reflecting on the Collective Efforts On February 29th, 2024, the Zahra Beau Welfare Foundation (ZBWF) and the Health Services Academy (HSA) came together in a remarkable collaboration to celebrate World Rare Disease Day. This joint effort aimed to shed light on the often-overlooked challenges faced by individuals living with...
GALACTOSEMIA What is Galactosemia? Galactosemia is a rare genetic disorder that affects the body’s ability to metabolize the sugargalactose, which is found in milk and dairy products. There are three types of galactosemia:Classic galactosemia, which is the most severe form; Galactokinase deficiency, which is a milder form; and UDP-galactose 4-epimerase deficiency, which is the mildest...
Other Names Glutaric Acidemia II (GA2, GA II) Glutaric Aciduria Type 2 Multiple Acyl-CoA Dehydrogenase Deficiency (MAD, MADD) Electron Transfer Flavoprotein Dehydrogenase Deficiency (ETFA, ETFB, ETFDH) Diagnosis Coding E71.313, Glutaric Aciduria type II Disorder Category A fatty acid oxidation disorder Frequency Glutaric Acidemia type II is a very rare disorder; its precise...
Incidence Methylmalonic Acidemia (MMA) is estimated to affect one out of every 50,000 to 100,000 babies born in the United States. MMA is caused by cobalamin disorders A and B is only one form of Methylmalonic Acidemia. Incidence by ethnicity It also creates a high number of false-positive results at a ratio of 5 infants...
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood. This is why Newborn Screening is necessary. Other...
The history of New Born Screening 1960s – Robert Guthrie is given much of the credit for pioneering the earliest screening for phenylketonuria in the late 1960s using blood samples obtained by pricking a newborn baby’s heel on the second day of life on filter paper. 1961 – Robert Guthrie came up with bacterial inhibition...
On March 21st 2019, I travelled to Peshawar along with the Chairman and the Manager for a visit to the Lady Reading Hospital there. We set off from Bahria Town, Rawalpindi at 7am, and entered Peshawar around 10am. Peshawar is the capital and the economic hub of Khyber Pakhtunkhwa province. In 2017, the rural...
Akber Naqvi – Co-Founder of The ZB Foundation is the only Pakistani running in the Marathon des Sables 2019 out of approx a 1000 people. He is also the first ever Pakistan born runner to participate. Watch the official start of Marathon des Sables 2019 video here:
Hi Everyone, Both Akber and Vik are finally on their way to Morocco to participate in Marathon des Sables 2019 http://marathondessables.com/en/marathon-des-sables The guys have been training intensely for months and now they are ready to race for real. Heres a little message from Akber and Vik: Akber’s message – https://www.youtube.com/watch?v=gH9gdMpHc18 Vik’s message – https://www.youtube.com/watch?v=oh4e43qOchc Keep an eye on...
Scientists are now assuming that maybe cancer was never meant to be a genetic disease despite the decades of therapies, it is still the most fatal of all the diseases in the world. NIH gets the most funding for it. They are conceptualizing that maybe cancer is due to flawed metabolism rather than damaged DNA....
