Imagine this: running in temperatures of 50 Degrees, with the sun burning down on your skin, sand grains in your eyes, your mouth as dry as the desert, your back pack containing your weeks food, extra clothes, medical kit and even your bed – sleeping bag strapped on your back. Your feet are sore as...
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...
Deaf Awareness Week is also called as International Week of the Deaf is celebrated globally in the last week of September. The first International Day of the Deaf was first celebrated by the World Federation of the Deaf (WFD) in 1958. The day of awareness was later extended to a full week, becoming the International...
What causes Tyrosinemia? In Tyrosinemia, the protein Tyrosine does not get broken down because of enzyme deficiency due to genetic problems. Tyrosine is converted to Succinylacetone, which builds up in the blood and other body tissues which leads to liver damage and interferes with another enzyme leading to neurologic problems. Without treatment, Tyrosinemia leads to...
Frequency of PKU PKU has a frequency of roughly 1 in every 10,000 births and is one of the “rare” genetic diseases. Treatment – Nutritional Therapy Optimal treatment requires diagnosis to be done as soon as possible, ideally in the second week of life (before 1 month of life), strict monitoring throughout life...
Nutritional therapy should be started as early as possible, preferably during the second week of life, considering that diagnostic confirmation will take place during the first week of life. Depending on the initial value, PHE intake should be excluded until PHE values attain ranges that do not cause neurological damage. It is important to note...
Cell Biochemistry Our body is composed of organs which are basically complex bundles of cells. Cells are the basic units of a living being. A cell’s daily operations are accomplished through the biochemical reactions that take place within the cell. Reactions are turned on and off or sped up and slowed down according to...
