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 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...
There are many children in Pakistan who happen to suffer from a thyroid gland disorder called Congenital Hypothyroidism. She may be six years old in age and ideally, like her peers she should be about start school. However a girl with Congenital Hypothyroidism will be shorter than her peers and have the mentality of a...
Rare diseases include metabolic and genetic disorders. Their treatment, screening tests and diagnosis facilities are not available commonly in Pakistan. The tests that The Zahra Beau Naqvi Foundation Welfare Trust (The ZB Foundation) are providing free of cost are of inherited metabolic diseases in newborn babies. The most reported of the rare inherited metabolic diseases...
