Congenital Adrenal Hyperplasia (CAH)
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Congenital Adrenal Hyperplasia (CAH)

Congenital Adrenal Hyperplasia (CAH) Prognosis and Outlook The long-term outlook (prognosis) for people with congenital adrenal hyperplasia (CAH) is usually good. With lifelong treatment, affected people typically have good health and normal life spans. However, problems with psychological adjustment are common, particularly in people with genital abnormalities. If congenital adrenal hyperplasia (CAH) is treated soon...

Next Generation Sequencing Seminar 2017 – Pakistan
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Next Generation Sequencing Seminar 2017 – Pakistan

  The seminar was held by H. A. Shah & Sons which is a company of H. A. Shah Group in collaboration with Thermo Fisher Scientific on Next Generation Sequencing at Ramada Hotel Islamabad. It was thoroughly attended by the clinical team of The ZB Foundation, who also interacted with the technical attendees there. The...

A briefing on New Born Screening for parents!
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A briefing on New Born Screening for parents!

What is Newborn Screening? Newborn screening (NBS) is the practice of testing every newborn for certain harmful or potentially fatal disorders.   Why Does Every Newborn Need To Be Screened? Newborn screening can quite literally save a child’s life, so there is no reason not to do it. The disorders aren’t otherwise apparent (symptomatic) at...

Inherited Metabolic Disorders: A Generic View
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Inherited Metabolic Disorders: A Generic View

What is Metabolism? Metabolism refers to all the chemical reactions taking place in the body to convert or use energy. A few major examples of metabolism include: Breaking down the carbohydrates, proteins, and fats in food to release energy. Transforming excess nitrogen into waste products excreted in urine. Breaking down or converting chemicals into other...

Congenital Hypothyroidism: The Most Abundant of the Inborn Metabolic Disorders in Pakistan
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Congenital Hypothyroidism: The Most Abundant of the Inborn Metabolic Disorders in Pakistan

  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...

Dealing with Phenylketonuria (PKU)
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Dealing with Phenylketonuria (PKU)

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...

Cystic Fibrosis: The Lung and Pancreas Infection Your Child May Get From You
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Cystic Fibrosis: The Lung and Pancreas Infection Your Child May Get From You

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%...

Galactosemia: The Most Common Monogenic Disorder of Carbohydrate Metabolism
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Galactosemia: The Most Common Monogenic Disorder of Carbohydrate Metabolism

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...

Dealing with Maple Syrup Urine Disease (MSUD): All that you need to know
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Dealing with Maple Syrup Urine Disease (MSUD): All that you need to know

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...