You Position: Home > Paper
Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type
( views:32, downloads:12 )
- Author:
- No author available
- Journal Title:
- Chinese Medical Journal
- Issue:
- 4
- DOI:
- 10.4103/0366-6999.199826
- Key Word:
- Homocystinemia;Late-onset;Manic-depressive Psychosis;Methylmalonic Aciduria;Methylmalonic Aciduria and Homocystinemia Type C Protein
Abstract： Methylmalonic aciduria (MMA) is an autosomal recessive disorder of cobalamin (cbl) metabolism.Cobalamin C (cblC) disease is the most common type of MMA and is characteristically concurrent with homocystinemia (HCY) due to impaired synthesis of two active forms of cbl,namely adenosylcobalamin (AdoCb1) and methylcobalamin (MeCbl).
- [1]Liu J,Anastasio N,Lerner Ellis JP.Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.[J].2009,30(7).
- [2]Fei Wang,Lianshu Han,Yanling Yang,etc.Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China[J].2010,33(3 Supplement).
- [3]Demeret S,Gervais D,Ogier De Baulny H,etc.Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.[J].2003,60(10).
- [4]Hosack AR,Atkinson JL,Moras E,etc.Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type[J].2006,38(1).