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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in the MMACHC gene was identified in a UDN participant with decline in language and memory (cognitive regression), sudden muscle jerks (myoclonus), and increased muscle tone in lower limbs (limb hypertonia)
Mar 20, 2023
metabolism of cobalamin associated C
MMACHC gene is responsible for forming a complex to transport cobalamin across the lysosomal membrane(Deme et al., 2014). Additionally, it assists in the conversion of MeCbl or AdoCbl into intermediate cob(I)alamin (Kim et al., 2009). It is a cobalamin cytosolic chaperone that catalyzes the reductive decyanation of cyanocob(III)alamin to yield cob(II)alamin and cyanide (Kim et al., 2008; Froese et al., 2009; Koutmos et al., 2011; Gherasim et al., 2015).
A heterozygous change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!