Homocystinuria (HCU) is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine...

disorder.[citation needed] The exception is methylmalonic acidemia and homocystinuria, cblX type due to variants in HCFC1 gene, which is inherited in an X-linked...

Marfan syndrome, Ehlers–Danlos syndromes, Loeys–Dietz syndrome, and homocystinuria. It is also seen in congenital contractural arachnodactyly, which is...

the risk of thrombus formation. Homocystinuria is the second most common cause of heritable ectopia lentis. Homocystinuria is an autosomal recessive metabolic...

Homocarnosinosis Homocystinuria due to cystathionine beta-synthase Homocystinuria due to defect in methylation (cbl g) Homocystinuria due to defect in...

effects. It can also be associated with lupus, polycythemia vera and homocystinuria. Malar flush is a plum-red discolouration of the high cheeks. Mitral...

Associated conditions include: Multiple endocrine neoplasia type 2B Homocystinuria Ehlers-Danlos syndrome: Marfanoid habitus is generally associated with...

The CBS gene is the most common locus for mutations associated with homocystinuria. The systematic name of this enzyme class is L-serine hydro-lyase (adding...

characteristic, due to mutations in the FBN1 gene that encodes fibrillin 1. Homocystinuria - condition of methionine metabolism brought on by a cystathionine β-synthase...

"redness" and the Latin "of embarrassment") fever fibromyalgia histamines homocystinuria (flushing across the cheeks) Horner's syndrome hot flush hyperglycaemia...

therapy for inherited metabolic disorders, such as phenylketonuria and homocystinuria, and can also be used to treat kidney or liver disease. Low protein...

the brand name Cystadane is indicated for the adjunctive treatment of homocystinuria, involving deficiencies or defects in cystathionine beta-synthase (CBS)...

diseases:[citation needed] Combined malonic and methylmalonic aciduria (CMAMMA) Homocystinuria Methylmalonic acidemia Propionic acidemia The industrial synthesis combines...

study on the treatment of children with methylmalonic acidemia and homocystinuria found oral hydroxocobalamine at 1 mg daily to be ineffective in reducing...

an abnormal tendency to bleed, and if some rarer processes such as homocystinuria might be involved. For hemorrhagic stroke, a CT or MRI scan with intravascular...

disorders which affect connective tissue, such as Marfan syndrome and homocystinuria. Schachner, Lawrence A.; Hansen, Ronald C. (2011). Pediatric Dermatology...

(Cystadane) containing betaine has limited use for oral treatment of genetic homocystinuria to lower levels of homocysteine in circulating blood. Trimethylglycine...

Ehlers–Danlos syndrome, Morquio syndrome, trisomy 18, trisomy 21, homocystinuria, osteogenesis imperfecta, multiple lentigines syndrome (LEOPARD syndrome)...

associated with genetic connective tissue disorders such as Marfan syndrome, homocystinuria and Ehlers–Danlos syndrome. Nasal septum deviation is the most common...

7326/M20-1443. PMID 32894695. S2CID 221542952. "OMIM Entry – # 236200 – Homocystinuria Due to Cystathionine Beta-Synthase Deficiency". omim.org. Retrieved...

Diabetes mellitus Fabry's disease Galactosemia / galactosemic cataract Homocystinuria Hyperparathyroidism Hypoparathyroidism Hypervitaminosis D Hypothyroidism...

(2011-11-20). "Riboflavin-Responsive Trimethylaminuria in a Patient with Homocystinuria on Betaine Therapy". JIMD Reports. 5: 71–75. doi:10.1007/8904_2011_99...

associated with CblE type of homocystinuria. (MTRR):c.1953-6_1953-2del5 – Novel mutation associated with CblE type of homocystinuria. Unstable mRNA arising...

experienced a pneumothorax. Several hereditary conditions – Marfan syndrome, homocystinuria, Ehlers–Danlos syndromes, alpha 1-antitrypsin deficiency (which leads...

occurs.[citation needed] Medium-chain acyl-CoA dehydrogenase deficiency Homocystinuria Congenital hypothyroidism Isovaleric acidemia Glutaricaciduria type...

acidemia with homocystinuria Methylmalonic acidemia Methylmalonic aciduria microcephaly cataract Methylmalonicacidemia with homocystinuria, cbl D Methylmalonicaciduria...

cobalamin C disease (which results in combined methylmalonic aciduria and homocystinuria) may require treatment with intravenous or intramuscular hydroxocobalamin...

Vlatka; Bušić, Željko; Olujić, Boris; Brkljačić, Boris (March 2010). "Homocystinuria, a possible solution of the Akhenaten's mystery". Collegium Antropologicum...

bone marrow failure syndromes Inherited disorders of DNA synthesis Homocystinuria Lesch-Nyhan syndrome Deficient enzymes for folate metabolism Liver disease...

gyromitra mushroom (false morel) poisoning, hydrazine exposure and homocystinuria Doses of 50 mg to 100 mg per day may also be used to treat pyridoxine...