Do Inherited Metabolic Disorders (IMDs) Cause Disability?
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Do Inherited Metabolic Disorders (IMDs) Cause Disability?

    What is Disability? The Social Security Administration’s impairment listing manual (called the blue book) lists a number of impairments, both physical and mental, that will automatically qualify an individual for Social Security disability benefits (SSDI) or Supplemental Security Income (SSI), provided the individual’s condition meets, or is equivalent to, the specified criteria for...

Rare Diseases Day – Exclusive Interview
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Rare Diseases Day – Exclusive Interview

IMDs – Inborn Metabolic Diseases – where newborns lack essential enzymes in the body that can lead to serious complications in a child’s development – are one subset of between 5,000 and 8,000 types of rare diseases that have been detected globally, according to the European Medicines Agency. In an effort to spread awareness regarding this...

Newborn Hearing Tests
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Newborn Hearing Tests

In December 2017, The ZB Foundation was donated Newborn Hearing Test equipment by The Audiology Centre, Lahore. We will soon start this test in Pakistan. It is now time that we introduce this test to parents. With receiving this equipment, we stand with the deaf and hearing impaired communities in their struggle to gain empowerment....

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...