Autoszomális recesszív
Caused by changes in both copies of VARS1, the enzyme that attaches the amino acid valine to its transfer RNA for protein production. Missense changes are thought to disrupt its catalytic and tRNA-binding regions, and some variants cause loss of function.
Tünetek és jelek
Progressive microcephaly, seizures, which can be intractable, and developmental delay or intellectual disability are typical.
Mit változtat a diagnózis
Seizure management, feeding support and developmental therapies, coordinated by a neurologist. Carrier testing of relatives and genetic counselling are available.
Vizsgált gének
Más néven
NDMSCA
