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Treatment Physical therapy, clomipramine [ 3 ] Oculocerebrorenal syndrome (also called Lowe syndrome ) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia , intellectual disability , proximal tubular acidosis , aminoaciduria and low-molecular-weight proteinuria .
Ornithine translocase deficiency belongs to a class of metabolic disorders referred to as urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys .
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
The disease was formerly known as myoadenylate deaminase deficiency (MADD). In virtually all cases, the deficiency has been caused by an SNP mutation, known as rs17602729 or C34T . While it was initially regarded as a recessive (or purely homozygous ) disorder, some researchers have reported the existence of similarly deleterious effects from ...
Pharmacologic treatment in acute situations consists of replacing the enzyme concentrate that is deficient or dysfunctional in this disease process. [20] In life-threatening situations, including cases of oral and pharyngeal swelling, it is important to manage these symptoms and to protect the airways to lower the risk of mortality. [ 20 ]
Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and bleeding due to an inherited mutation of the gene for factor IX, and resulting in a deficiency of factor IX. It is less common than factor VIII deficiency (haemophilia A). [3] Haemophilia B was first recognized as a distinct disease entity in 1952. [4]
Symptoms of OAT deficiency are progressive, and between the ages of 45 and 65, most affected individuals are almost completely blind. [ 3 ] In some cases, affected individuals will present in the neonatal period with disease that closely mimics a classic urea cycle defect, such as ornithine transcarbamylase deficiency , as the block in ...
Aminolevulinic acid dehydratase deficiency porphyria (also known as Doss porphyria, [1] plumboporphyria, [1] or ADP [2]) is an extremely rare autosomal recessive metabolic disorder that results from inappropriately low levels of the enzyme delta-aminolevulinic acid dehydratase (), which is required for normal heme synthesis.