Mental retardation and microcephaly with pontine and cerebellar hypoplasia information

Intellectual disability and microcephaly with pontine and cerebellar hypoplasia
Other names	X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia[1]
This condition is inherited in an X-linked dominant manner.
Specialty	Medical genetics

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA); X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked intellectual disability–microcephaly–pontocerebellar hypoplasia syndrome; and by variations of these terms – 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.^[2]

The disorder is associated with a mutation in the CASK gene.^[3] As with the vast majority of genetic disorders, there is no known cure to MICPCH.^{[citation needed]}

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.^[4] It is also speculated that phosphoinositide 3-kinase in the inositol metabolism is impacted in the disease, causing folic acid metabolization problems.^{[citation needed]}