Mental retardation and microcephaly with pontine and cerebellar hypoplasia
| Mental retardation and microcephaly with pontine and cerebellar hypoplasia | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 300749 |
| Patient UK | Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
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.[1]
The disorder is associated with a mutation in the CASK gene which is transmitted in an X-linked manner.[2] 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.[3] It is also speculated that phosphoinositide 3-kinase in the inositol metabolism is impacted in the disease, causing folic acid metabolization problems.
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 300749
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