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Mental retardation and microcephaly with pontine and cerebellar hypoplasia

Mental retardation and microcephaly with pontine and cerebellar hypoplasia
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
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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 .

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.



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