Genetic Disorders

Definition Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body’s ability to convert galactose (a sugar contained in milk, including human mother’s milk) to glucose (a different type of sugar). The disorder is caused by a deficiency of an enzyme galactose-1-phosphate uridyl transferase (GALT) which is …

Definition Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain. There is a deficiency of a lysosomal enzyme called acid sphingomyelinase or disturbance in cholesterol breakdown or transportation. This enzyme …

Definition Trisomy 13, also called Patau’s syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an …

General Description Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder, in which the defect in the Branched Chain Ketoacid Dehydrogenase (BCKD) enzyme causes irregular amino acid metabolism. This leads to accumulation of protein in the body. The disease is characterized by urine that smells like maple syrup …

Definition Klinefelter’s Syndrome is a genetic disorder that affects males; this is due to when a male born with an extra copy of X chromosome, which causes infertility, low testosterone and other abnormalities such as breast development. This syndrome affects the testicular growth, results in smaller testicles and may cause …

Definition Phenylketonuria (PKU) is a rare, but potentially serious, inherited disorder. Our bodies break down protein in foods like meat and fish into amino acids, which are the “building blocks” of protein. These amino acids are then used to make our own proteins. Any amino acids that aren’t needed are …

Definition Progeria or  Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder which causes children to age rapidly. The first signs of this disorder can be seen as early as within two years of life of the child. When born, children with Hutchinson-Gilford Progeria Syndrome appear normal without any …

Definition Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. These tumors can develop anywhere in your nervous system, including your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood. Neurofibromatosis Types of Neurofibromatosis The three types of neurofibromatosis are Nf1, …