X 連鎖知的発達障害症候群 [DS:H00658] メチルマロン酸尿症およびホモシスチン尿症 [DS:H02221] メチルマロン酸尿症 [DS:H00174] 二次性高アンモニア血症 [DS:H01400]
概要
Methylmalonic acidemia and hyperhomocysteinemia (MAHC) cblX type is X-linked form of combined methylmalonic acidemia and hyperhomocysteinemia. The clinical symptoms are similar to MAHC cblC type, that is caused by mutations in MMACHC gene. They can feature neurologic, renal, cardiac, hematologic, and ophthalmologic manifestations. MAHC cblX type is caused by mutations in transcriptional coregulator HCFC1. Functional analysis implicated HCFC1 in transcriptional regulation of MMACHC.
Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J
タイトル
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
