Mental retardation and microcephaly with pontine and cerebellar hypoplasia | |
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This condition is inherited in an X-linked dominant manner | |
Classification and external resources | |
Specialty | medical genetics |
ICD-10 | Q04.3 |
OMIM | 300749 |
Orphanet | 163937 |
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 .
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 . It is also speculated that phosphoinositide 3-kinase in the inositol metabolism is impacted in the disease, causing folic acid metabolization problems.