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...

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...

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

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

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

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

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

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

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

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

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

(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...

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...

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

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

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

Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene. The C-terminal region of the...

inheritance disease which results in combined methylmalonic aciduria and homocystinuria), can be treated with intravenous or intramuscular hydroxocobalamin...

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

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

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

Canavan disease Cobalamin deficiency (combined methylmalonic aciduria and homocystinuria) Dandy–Walker malformation Glutaric aciduria type 1 L-2-hydroxyglutaric...

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

(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)...

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

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

hypophosphatasia (for which it is often misdiagnosed), glycogen storage diseases, homocystinuria, Ehlers–Danlos syndrome, porphyria, Menkes' syndrome, epidermolysis...