Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Intellectual disability and microcephaly with pontine and cerebellar hypoplasia, also known as mental retardation, X-linked, syndromic, Najm type, is a rare X-linked dominant genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia. It usually affects females; many males die before birth or not long after.
The disorder is associated with a mutation in the CASK gene. As with the vast majority of genetic disorders, there is no known cure to MICPCH.
The following values seem to be aberrant in children with CASK gene defects: lactate, pyruvate, 2-ketoglutarate, adipic acid and suberic acid, which seems to backup the proposal that CASK affects mitochondrial function. It is also speculated that phosphoinositide 3-kinase in the inositol metabolism is impacted in the disease, causing folic acid metabolization problems.
