Mental retardation and microcephaly with pontine and cerebellar hypoplasia: Difference between revisions
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The disorder is associated with a [[mutation]] in the ''[[CASK]]'' [[gene]] which is transmitted in an [[X-linked]] manner.<ref>{{cite doi|10.1186/1750-1172-7-18}}</ref> As with the vast majority of genetic disorders, there is no known cure to MICPCH. |
The disorder is associated with a [[mutation]] in the ''[[CASK]]'' [[gene]] which is transmitted in an [[X-linked]] manner.<ref>{{cite doi|10.1186/1750-1172-7-18}}</ref> As with the vast majority of genetic disorders, there is no known cure to MICPCH. |
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The following values seem to be aberrant in children with CASK gene defects: lactate, pyruvate, 2 ketoglutarate, adipic acid, suberic acid which seems to backup the thesis of Konark Mukherjee that CASK affects mitochondrial function. (see publication below) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075472/ MCT oil is being provided to a number of children de dato 25/08/2014, the effects on their blood values is not yet known. It however seems wise that the children are seen by a doctor specialized in mitochondrial disfunction. |
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There are indications that for children with a defect in the CASK gene, the aldose reductase pathway is disturbed. |
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http://en.wikipedia.org/wiki/Aldose_reductase |
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It might be useful for patients with a defect in the CASK gene or a deletion or duplication of the gene to see a doctor specialized in congenital disorders of glycosylation. |
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== See also == |
== See also == |
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Revision as of 07:06, 25 August 2014
| Mental retardation and microcephaly with pontine and cerebellar hypoplasia | |
|---|---|
| Specialty | Medical genetics  |
Intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as Intellectual disability, 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, suberic acid which seems to backup the thesis of Konark Mukherjee that CASK affects mitochondrial function. (see publication below) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075472/ MCT oil is being provided to a number of children de dato 25/08/2014, the effects on their blood values is not yet known. It however seems wise that the children are seen by a doctor specialized in mitochondrial disfunction.
See also
References
- ^ Online Mendelian Inheritance in Man (OMIM): 300749
- ^ Attention: This template ({{cite doi}}) is deprecated. To cite the publication identified by doi:10.1186/1750-1172-7-18, please use {{cite journal}} (if it was published in a bona fide academic journal, otherwise {{cite report}} with
|doi=10.1186/1750-1172-7-18instead.
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