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...
Overview Tyrosinemia is one type of amino acid disorder It is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acidtyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems. There are three types...
What is Metabolism? Metabolism refers to all the chemical reactions taking place in the body to convert or use energy. A few major examples of metabolism include: Breaking down the carbohydrates, proteins, and fats in food to release energy. Transforming excess nitrogen into waste products excreted in urine. Breaking down or converting chemicals into other...
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