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...
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....
History Citrullinemia was first reported in 1962 (McMurray et al 1962). Its name derives from the marked elevation of L-citrulline in blood of affected individuals. This disorder has also been called “citrullinuria” because of the increased excretion of L-citrulline in urine and “argininosuccinic acid (argininosuccinate) synthetase deficiency” to denote its enzyme defect. Heterogeneity is seen...
History Citrullinemia was first reported in 1962 (McMurray et al 1962). Its name derives from the marked elevation of L-citrulline in blood of affected individuals. This disorder has also been called “citrullinuria” because of the increased excretion of L-citrulline in urine and “argininosuccinic acid (argininosuccinate) synthetase deficiency” to denote its enzyme defect. Heterogeneity is seen...
The ZB Foundation was invited to participate in Hashoo Foundation Health Fest on 28th and 29th September 2018, which was held at Pakistan National Council of Arts (PNCA) in Islamabad. Our team set up a stall over there to educate the audience over there about Newborn Screening. Hashoo Foundation is an organization that works actively...
What we as a society need to understand is that equality of rights means understanding where other stands while giving them the opportunity to fully bloom irrespective of the challenges they face. At some place we compromise, at some point they compromise. That’s called society. Following is how you conduct yourself in a society where...
