[…] result in the presentation of MEHMO syndrome. Thus, there is a critical need to determine the underlying molecular mechanism governing the phenotype and symptoms of MEHMO patients. [grantome.com]

We suspect that in the present case, KD therapy led to an abnormal load on the beta cells that were damaged owing to eIF2γ dysfunction. Therefore, the adverse effects of KD in patients with MEHMO syndrome should be considered. [keio.pure.elsevier.com]

[…] and hypogenitalism, microcephaly, and obesity Mental retardation, X-linked, syndromic, Borck type Mental retardation, X-linked, syndromic 20 Mental retardation, X-linked, syndromic 25 MRXS20 MRXS25 MRXSBRK Keywords Any medical or genetic information present [uniprot.org]

• Movement Disorder

  Mohr-Tranebjaerg (Sensorineural deafness, blindness, and movement disorder) is caused by mutations in the DDP1 gene, which is involved in the mitochondrial transport machinery.5 Sideroblastic anemia with ataxia is another X-linked disorder, which is caused [nature.com]

• Pneumonia

  Microcephaly was first noted at the age of 2 months when he was hospitalised for pneumonia. A head CT was normal. At the age of 11 months he was hospitalised for infantile spasms. The EEG revealed a burst suppression pattern. [nature.com]

• Dystonia

  A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness Nat Genet 1996 14: 177–180 Article CAS Google Scholar Bekri S, Kispal G, Lange H et al. [nature.com]

• Liver Biopsy

  Our patient did not undergo a liver biopsy but his muscle biopsy revealed marked fat infiltration thus also suggesting an abnormality in fat metabolism. [nature.com]

The long-term goal of these studies is to contribute to the identification of key factors that serve to promote MEHMO syndrome, so that improved strategies can be developed for the treatment of MEHMO patients. [grantome.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

PMID: 33714664 Prognosis Mori M, Kumada T, Inoue K, Nozaki F, Matsui K, Maruo Y, Yamada M, Suzuki H, Kosaki K, Shibata M Brain Dev 2021 Jun;43(6):724-728. Epub 2021 Mar 11 doi: 10.1016/j.braindev.2021.02.002. [ncbi.nlm.nih.gov]

[…] of the corpus callosum Inability to walk Intellectual disability Poor speech Seizure Spastic tetraparesis Spasticity Ventriculomegaly Ear malformation Macrotia Growth abnormality Birth length less than 3rd percentile Obesity Small for gestational age Etiology [ncbi.nlm.nih.gov]

Type; Mrxsbrk 57 Mental Retardation, X-Linked, Syndromic 20; Mrxs20 57 Mental Retardation, X-Linked, Syndromic 25; Mrxs25 57 Syndromic X-Linked Mental Retardation 20 12 Syndromic X-Linked Mental Retardation 25 12 X-Linked Mehmo Syndrome 20 Orphanet epidemiological [malacards.org]

Conclusion: The pathophysiology of glucose intolerance in MEHMO syndrome remains to be elucidated; however, recent studies have suggested that EIF2S3 gene variants could lead to glucose dysregulation and β-cell damage in the pancreas. [keio.pure.elsevier.com]

A TC readily binds the scanning 40S subunit enabling reinitiation at one of the subsequent inhibitory uORFs (uORFs2-4), which prevents ribosomes from scanning to the GCN4 main ORF (mORF) and synthesizing GCN4 protein. [academic.oup.com]