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Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as Mental retardation, X-linked, syndromic, Najm type (MRXSNA), is a rare genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia. The disorder is associated with a mutation in the ''CASK'' gene which is transmitted in an X-linked manner. 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.〔http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075472/〕 It is also speculated that phosphoinositide 3-kinase in the inositol metabolism is impacted in the disease, causing folic acid metabolization problems. == See also == * Pontocerebellar hypoplasia * X-linked mental retardation 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Mental retardation and microcephaly with pontine and cerebellar hypoplasia」の詳細全文を読む スポンサード リンク
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