Search results
Results from the WOW.Com Content Network
Tetrahydrobiopterin deficiency (THBD, BH 4 D) is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems.
Dihydropteridine reductase deficiency (DHPRD) is a genetic disorder affecting the tetrahydrobiopterin (BH4) synthesis pathway, inherited in the autosomal recessive pattern. It is one of the six known disorders causing tetrahydrobiopterin deficiency , and occurs in patients with mutations of the QDPR gene.
Isovaleric acidemia has an autosomal recessive pattern of inheritance. The disorder has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome , and two copies of the gene – one from each parent – must be inherited to be affected by the disorder.
When it comes to muscular diseases, most of us have heard of especially common ones like muscular dystrophy and Lou Gehrig's disease.But one of the rarest muscular disorders is also one of the ...
Medicare. News. Science & Tech. Shopping. Sports. Weather. 24/7 Help. For premium support please call: 800-290-4726 more ways to reach us. ... 10. You're taking medications that cause weight gain
Three employees at a Maryland Cracker Barrel have reportedly been dismissed after staff refused to seat a group of students with special needs on Dec. 3 Superintendent of Charles County Public ...
D-Bifunctional protein deficiency is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination of peroxisomal assembly defects or by deficiencies of specific peroxisomal enzymes. The peroxisome is an organelle in the cell similar to the lysosome that functions to detoxify the cell.
Government of Canada, accessed Dec. 10, Reasons you may be inadmissible to Canada Government of Canada, accessed Dec. 10, Immigration and Refugee Protection Act (S.C. 2001, c. 27) Thank you for ...