Cystathionine beta synthase deficiency or CBS deficiency[1]
Homocysteine
Specialty
Endocrinology, medical genetics
Homocystinuria or HCU[2] is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase.[3] It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate.[3]
^Online Mendelian Inheritance in Man (OMIM): 236200
^"Homocystinuria". 9 May 2018.
^ abTao, Le (2020-01-02). First aid for the USMLE step 1 2020 : a student-to-student guide. Bhushan, Vikas,, Sochat, Matthew,, Kallianos, Kimberly,, Chavda, Yash,, Zureick, Andrew H. (Andrew Harrison), 1991-, Kalani, Mehboob. New York. ISBN 9781259837630. OCLC 948547794.{{cite book}}: CS1 maint: location missing publisher (link)
Homocystinuria or 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...
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 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...
the risk of thrombus formation. Homocystinuria is the second most common cause of heritable ectopia lentis. Homocystinuria is an autosomal recessive metabolic...
acidemia with homocystinuria is a group of autosomal recessive inborn errors of cobalamin metabolism. Methylmalonic acidemia Homocystinuria "Monarch Initiative"...
disorders which affect connective tissue, such as Marfan syndrome and homocystinuria. The condition is mentioned in the Rizzoli & Isles episode Boston Strangler...
Cystadane among others, is indicated for the adjunctive treatment of homocystinuria, involving deficiencies or defects in cystathionine beta-synthase (CBS)...
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...
(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...
syndrome MEGF8-related Carpenter syndrome Methylmalonic acidemia with homocystinuria, type cblX MGAT2-congenital disorder of glycosylation Microbrachycephaly-ptosis-cleft...
cobalamin C disease (which results in combined methylmalonic aciduria and homocystinuria) may require treatment with intravenous or intramuscular hydroxocobalamin...
(Cystadane) containing betaine has limited use for oral treatment of genetic homocystinuria to lower levels of homocysteine in circulating blood. Trimethylglycine...
associated with genetic connective tissue disorders such as Marfan syndrome, homocystinuria and Ehlers–Danlos syndrome. Nasal septum deviation is the most common...
hypophosphatasia (for which it is often misdiagnosed), glycogen storage diseases, homocystinuria, Ehlers–Danlos syndrome, porphyria, Menkes' syndrome, epidermolysis...
Vlatka; Bušić, Željko; Olujić, Boris; Brkljačić, Boris (March 2010). "Homocystinuria, a possible solution of the Akhenaten's mystery". Collegium Antropologicum...
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