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Publications - Genetics Made Easy
Arab Genomic Studies
Neonatal Screening

Authors: Alana Kinrich, Abdul Rezzak Hamzeh, Ghazi Omar Tadmouri, and Pratibha Nair

Congenital Adrenal Hyperplasia: Congenital Adrenal Hyperplasia (CAH) is a genetic disorder of the adrenal glands. People with CAH cannot make enough of certain essential hormones, particularly cortisol and aldosterone. At the same time,the body produces an excess of androgens such as testosterone, which can cause male characteristics to appear early or inappropriately. The most common cause ...

Congenital Hyperinsulinism: Congenital hyperinsulinism (also called hyperinsulinemic hypoglycemia) is a disorder of abnormally high insulin levels and the most frequent cause of severe, persistent hypoglycemia-low blood sugar levels-in newborn babies and children. Normally, insulin is secreted by the pancreas in response to high blood sugar levels after eating food. Insulin can then reduce blood sugar...

Congenital Hypothyroidism: The thyroid is a butterfly-shaped gland at the base of the neck. Its function is to make and secrete specific hormones, particularly thyroid hormone (also called thyroxine or T4). Congenital Hypothyroidism (CH) is a condition present at birth in which an infant fails to produce enough thyroid hormone, resulting in a deficiency.There are number of different causes for congenital hypothyroidism...

Cystic Fibrosis: Cystic Fibrosis (CF) is an inherited multi-system disease that primarily affects the lungs and digestive system. CF is caused by a defective gene that creates a protein called cystic fibrosis transmembrane conductance regulator (CFTR). When this protein works normally, it helps regulate the movement of chloride and water within the body. A mutated form of this gene causes the body to produce abnormally thick and sticky fluid...

Homocystinuria: Homocystinuria is an inherited disorder in which the body is unable to properly break down certain building blocks of proteins (called amino acids) from ingested food. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The classical form of homocystinuria is due to a mutation in the CBS gene, which produces an enzyme...

Phenylketonuria: Phenylketonuria (PKU) is a genetic metabolic disorder in which a baby is born without an important enzyme known as phenylalanine hydroxylase (PAH). PAH is necessary to break down an amino acid called phenylalanine, commonly found in most foods, into certain hormones, neurotransmitters, and melanin. Patients with PKU have little to no PAH, and so they cannot digest and break down phenylalanine. Because phenylalanine is involved in the production of the pigment melanin, patients with PKU tend to have lighter skin, hair, and eyes than their siblings...