Glycogen Storage Disease Type 1A
Glycogen Storage Disease type 1 is one of the numerous genetic disorders that associated with the Glycogen Storage Diseases. The lack of sufficient enzymes prevents the body from breaking down the stored glycogen into glucose. Glucose that emerges from the breakdown of glycogen is supposed to be metabolized by the body for production of energy. The deficiency of these enzymes is what causes Glycogen Storage Disease type 1. The toxic buildup of glycogen occurs in an affected person’s liver, small intestines, and the kidneys. Affected children show the manifestation of symptoms at barely four months already suffering from lactic acidosis, hypoglycemia, and hepatomegaly. The infants feature doll-like faces and have chubby cheeks. Their edges are extremely thin and are short with protruding stomachs. They diarrhea and experience bleeding tendencies because of issues with their retarded blood platelets. Victims of the disorder suffer from frequent chronic neutropenia and bacterial infections. They experience numerous oral and abdominal ulcers too.
Childhood fatalities are not common, though.
Carrier DNA Tests for Glycogen Storage Disease Type 1A
Glycogen Storage Disease type 1 is a hereditary disorder that is inherited and expressed genotypically as a recessive trait. There, many people might not be affected by the syndrome but are carriers of the same and predispose their offspring to the disorder. Though testing of suspected persons displaying symptoms of the disease can be carried out by examination of enzymes, it is not the best method for combating this ailment. DNA testing is better placed as the ideal carrier DNA tests for Glycogen Storage disease Type 1A. Genetic testing, unlike enzyme testing, can detect if a person is a carrier through gene sequencing. It is the most suitable method of determining positive carrier status and for prenatal testing. Cultured amniocytes are instrumental for prenatal testing.
Genetic counseling has to be pre-conception prenatal arrangements. The counseling is meant to help couples determine whether or not they make proper matches for the production of offspring that is healthy and Glycogen Storage Disease type 1 free. If spouses are convinced they must bear children together despite higher chances of transmitting the disorder to the offspring through the autosomal recessive crossing, they get advised on suitable management methods for easing suffering. This disorder is only common Eastern Europe where Ashkenazi Jews reside. The general prevalence of the disease is one in 100,000 people but one in 20,000 for that particular Jewish ethnicity.