Homocystinuria Amino acid disorders (AAs) are a group of rare inherited conditions. They are caused by enzymes that do not...
ZB Blog
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...
Dealing with Phenylketonuria (PKU)
PKU: An Amino Acid Disorder Amino acid disorders incidence excluding Phenylketonuria (PKU) in West Midland (1 in 5354) according to...
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...
Amino Acids (AA) Disorders in Newborns
Incidence: Amino acid disorders incidence excluding Phenylketonuria (PKU) in West Midland (1 in 5354) according to the study conducted in...
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...