homocystinuria


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homocystinuria

[‚hō·mō‚sis·tə′nu̇r·ē·ə]
(medicine)
A hereditary disease characterized by a deficiency of the enzyme serine dehydratase causing incompletely dislocated lenses after the age of 10, thromboembolisms, and usually mental retardation.
References in periodicals archive ?
Dr Ben-Omran, who is also a senior consultant, paediatrics at HMC, said early detection of rare diseases like Homocystinuria helps eliminate potential complications and ultimately improve long-term health outcomes for patients.
Dr Tawfeg Ben-Omran, who is also a senior consultant, paediatrics at HMC, says early detection of rare diseases like Homocystinuria helps eliminate potential complications and ultimately improve long-term health outcomes for patients.
Hamad Medical Corporation's (HMC) Head of Clinical and Metabolic Genetics says early detection is the key to successfully managing rare conditions like Homocystinuria, a serious genetic disease characterized by long-term complications.
Cystadane, the only betaine anhydrous prescription medication approved by the US Food and Drug Administration, is indicated for the treatment of homocystinuria to decrease elevated homocysteine blood levels.
The "homocysteine theory" of atherosclerosis came up from the observation that diseases such as homozygous homocystinuria, which are characterized by severe hyperhomocysteinemia are associated with premature vascular disease.
2) In children, for example, mutations in the gene encoding the methylmalonic aciduria and homocystinuria type C (MMACHC) have been identified that result in abnormal cobalamin C metabolism, termed cobalamin C disease, which in turn has been associated with endothelial dysfunction, platelet activation, coagulation cascade activation, and increased expression of tissue factor.
Treatment of homocystinuria with a low-methionine diet, supplemental cystine and a methyl donor.
Homocystinuria, an accepted variant of hyperhomocysteinemia, has been associated with lens dislocation, mental retardation and thromboembolic conditions.
Trauma is the most common cause of this deformity but other causes include neurofibromatosis, congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency, (5) familial short stature, hereditary multiple exostoses, patients with homocystinuria and other less common syndromes (8).
Risk factors associated with various types of pneumothorax Primary spontaneous pneumothorax (PSP) Smoking Family history of PSP Birt-Hogg-Dube syndrome Familial cancer syndrome (FLCN) Marfan syndrome Homocystinuria Secondary spontaneous pneumothorax (SSP) Chronic obstructive pulmonary disease Cystic fibrosis Lung malignancy Necrotizing pneumonia Catamenial (*) Rare: Ankylosing spondylitis Asthma Histiocytosis X Interstitial lung disease Lymphangioleiomyomatosis Metastatic sarcoma Rheumatoid arthritis Sarcoidosis Iatrogenic / Traumatic Chest wall trauma Open or minimally invasive procedures to the chest wall or abdomen Infection Presence of gas forming organisms (*) In association with menses due to intra-thoracic endometriosis
Shortly after this, filter paper blood samples began to be used for NBS of other inherited diseases, such as CH, GALT, MSUD, CAH, and homocystinuria (HCY) (12).