Articles on Medical Diseases and Conditions

Entries for the ‘Genetic Disorders’ Category

Diseases of Carbohydrate Metabolism

Galactosemia. Galactosemia results from congenital inability to metabolize galactose to glucose. The most common source of galactose is milk, which contains lactose. Lactose is converted to glucose and galactose in the gastrointestinal (GI) tract by the enzyme lactase. There are three forms of galactosemia, each with autosomal recessive inheritance, and each caused by an enzyme […]

Diagnostic Methods

Various diagnostic modalities are available. Some genetic disorders involve chromosomes. Many chromosomal abnormalities are autosomal (not involving the sex chromosome); others are sex-linked (inherited through the sex chromosomes). In some cases there may be total or partial deletion of a chromosome, presence of an extra chromosome attached to a chromosome pair (trisomy), or translocation, when […]