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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H02222 Methylmalonic acidemia and hyperhomocysteinemia, cblX type
Pathway-based classification of diseases [BR:br08402]
Cofactor/vitamin metabolism
nt06538 Cobalamin transport and metabolism
H02222 Methylmalonic acidemia and hyperhomocysteinemia, cblX type
Cellular process
nt06523 Epigenetic regulation by Polycomb complexes
H02222 Methylmalonic acidemia and hyperhomocysteinemia, cblX type
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
Title
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
