Methylmalonic acidemia and hyperhomocysteinemia, cblX type

Definition:

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.

References:

[1]. Hung-Chun Yu, et al. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet. 2013 Sep 5;93(3):506-14. [Content Brief]

[2]. Lingli Huang, et al. A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet. 2012 Oct 5;91(4):694-702. [Content Brief]

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