The ZBF clinical team went to attend one day seminar on Genetic Testing for Rare and Celiac Inherited Diseases at CDA Hospital in Islamabad which started from 11am and ended around 1pm on Saturday 26th August 2017. There were two technical talks in total; both by prestigious specialists from Karachi called in especially...
August 2017 – The ZB Foundation screened 663 babies for Congenital Hypothyroidism. 64 samples of babies with high-risk conditions were sent to MedLabs in Amman Jordan for Detailed Screening. The total number of babies Screened for Congenital hypothyroidism has crossed 5000. So far, 698 samples have been sent to Medlabs Consultancy Group in total. The biggest achievement...
Homocystinuria Amino acid disorders (AAs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly. Protein is made up of smaller building blocks called amino acids. A number of different enzymes are needed to process these amino acids for use by the body. Because of missing or non-working...
Local Perspective In Pakistan exact incidence of congenital hypothyroidism is not known as no routine newborn screening was performed until ZB Foundation. In a study performed in a tertiary care hospital of Karachi, incidence reported as 1:1000 (Khurram IA et al 2003). In another study conducted retrospectively in Islamabad PIMS, high frequency of congenital...
PKU: An Amino Acid Disorder Amino acid disorders incidence excluding Phenylketonuria (PKU) in West Midland (1 in 5354) according to the study conducted in year (Sanderson et al, 2006). In British Columbia Amino acid disorder in Newborns is 24 in 100,000 births and 1/ 4,200 (Applegarth et al, January 2000) Prevalence The occurrence of PKU...
Local Prevalence In a study of year 2000, the reported frequency of the AF508 mutation in Pakistani children with CF is lower than the reported frequency among the Western Caucasian population (JPMA 50:217, 2000). Frossard et al. (1998) who had the opportunity to study Pakistanis in the United Arab Emirates reported a frequency of 86%...
Incidence: Amino acid disorders incidence excluding Phenylketonuria (PKU) in West Midland (1 in 5354) according to the study conducted in year (2006) (Sanderson et al, 2006) In British Columbia Amino acid disorder in Newborns is 24 in 100,000 births and 1/ 4,200 (Applegarth et al, January 2000) Overview: Amino acid disorders (AAs) are a group...
Incidence and Prevalence Incidence of the disorder group: Carbohydrate Metabolism Disorders 1 in 16000 live births Galactosemia incidence in metabolic disorders The birth prevalence of galactosaemia was 2.6 times greater in areas with a screening program. Estimated prevalence is between 1 in 30,000-60,000 live births. Galactosemia ratio in Pakistan population is 1:9634. Prevalence Local Prevalence...
Everything you need to know about MSUD – .Maple Syrup Urine Disease MSUD can be treatable if your child receives a newborn screening test. Below is a successful case of a British Pakistani who survived MSUD. A Successful Screened MSUD case in Sheffield Children Hospital: Habul Khatoon, daughter of Fehmida who lives in Birmingham was screened for...
Mr. Ali Javed Naqvi is the Chairman of The ZB Foundation and along with the dedicated team in Pakistan, he puts the daily wheels in motion. Introducing The ZB Foundation and apprising concerned officials of the Foundation’s mission and objectives as well as putting in place key arrangements for a comprehensive and sustainable New Born...
