World Rare Disease Day
World Rare Disease Day ÔÇô Reflecting on the Collective Efforts On February 29th, 2024, the Zahra Beau Welfare Foundation
Galactosemia
GALACTOSEMIA What is Galactosemia? Galactosemia is a rare genetic disorder that affects the body’s ability to metabolize the sugargalactose, which
Glutaric Acidemia Type II Disorder
Other Names Glutaric Acidemia II (GA2, GA II) Glutaric Aciduria Type 2 Multiple Acyl-CoA Dehydrogenase Deficiency (MAD, MADD) Electron Transfer
Methyl Malonic Acidemia (MMA)
Incidence Methylmalonic Acidemia (MMA) is estimated to affect one out of every 50,000 to 100,000 babies born in the United
Biotinidase Deficiency (BTD)
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition
The history of New Born Screening
The history of New Born Screening 1960s – Robert Guthrie is given much of the credit for pioneering the earliest