(Ile159Leu) presented with moderate ID, mild motor delay, microcephaly, epileptic seizures resistant to treatment, central obesity, and mild facial features. [pure.mpg.de]

Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. [ebi.ac.uk]

The child presented with recurrent hypoglycemia, microcephaly, small penis, persistent and refractory epilepsy. Both cases had lactic acidosis, and MRI showed thin corpus callosum. [jcp.xinhuamed.com.cn]

[…] 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]

Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence. [thelancet.com]

• Disability

  25 syndromic X-linked intellectual disability 25 MRXS25 syndromic X-linked intellectual disability 20 intellectual disability, X-linked, syndromic, Borck type; MRXSBRK MEHMO syndrome, X-linked recessive intellectual disability, X-linked, syndromic 20 [ebi.ac.uk]

  obesity syndrome (disorder) - Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome - X-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity [snomedbrowser.com]

  […] by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. [rarediseases.info.nih.gov]

  MEHMO syndrome: A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present. [findexpertmd.com]

  Mutations in EIF2S3, encoding the γ subunit of the heterotrimeric eukaryotic translation initiation factor eIF2, cause MEHMO syndrome, an X-linked intellectual disability disorder. [nyuscholars.nyu.edu]

• Epilepsy

  MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. [ebi.ac.uk]

  The child presented with recurrent hypoglycemia, microcephaly, small penis, persistent and refractory epilepsy. Both cases had lactic acidosis, and MRI showed thin corpus callosum. [jcp.xinhuamed.com.cn]

  1 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 62 57 5 28055140 2017 2 Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. [malacards.org]

  Obesity, early-onset diabetes and epilepsy are more variably present. [findexpertmd.com]

• Developmental Delay

  […] puberty Delayed pubertal development Delayed pubertal growth Pubertal delay [ more ] 0000823 Delayed speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech [rarediseases.info.nih.gov]

• Male Hypogonadism

  Male hypogonadism MedGen UID: 57480 •Concept ID: C0151721 • Disease or Syndrome Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin [ncbi.nlm.nih.gov]

  hypogonadism Decreased function of male gonad 0000026 Muscular hypotonia of the trunk Low muscle tone in trunk 0008936 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ] 0001518 Spasticity Involuntary muscle stiffness [rarediseases.info.nih.gov]

• Weakness

  […] mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Full cheeks Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ] 0000293 Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Muscular hypotonia Low or weak [rarediseases.info.nih.gov]

• Small Head

  […] skull Small head circumference Reduced head circumference Decreased size of skull [ more ] 0000252 Micropenis Short penis Small penis [ more ] 0000054 Obesity Having too much body fat 0001513 Round face Circular face Round facial appearance Round facial [rarediseases.info.nih.gov]

• Seizure

  epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Hide descriptions. [snomedbrowser.com]

  He had neonatal hypoglycemia at birth and later experienced refractory epileptic seizures and developed obesity and insulin-dependent diabetes. [keio.pure.elsevier.com]

  […] excluded subClassOf http://purl.obolibrary.org/obo/MONDO_0016565 http://purl.obolibrary.org/obo/MONDO_0016403 http://purl.obolibrary.org/obo/MONDO_0020119 http://purl.obolibrary.org/obo/MONDO_0016402 has exact synonym intellectual disability, epileptic seizures [ebi.ac.uk]

  (p. 138) Mehmo Syndrome: (Intellectual Disability-Epileptic Seizures-Hypogonadism and Hypogenitalism-Microcephaly-Obesity Syndrome, XLID-Microcephaly-Obesity-Hypogonadism-Seizures) This chapter provides pictures and clinical details of MEHMO SYNDROME [oxfordmedicine.com]

  DISEASE: MEHMO syndrome Entry H02195 Disease Name MEHMO syndrome Supergrp Syndromic X-linked mental retardation [DS:H00658] Description MEHMO syndrome is a rare X-linked syndrome characterised by mental retardation, epileptic seizures, hypogenitalism, [genome.jp]

(Ile159Leu) presented with moderate ID, mild motor delay, microcephaly, epileptic seizures resistant to treatment, central obesity, and mild facial features. [pure.mpg.de]

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]

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]

At this point in time however, the pathophysiology of hypoglycaemia in these patients is not clear. [thelancet.com]

Timely diagnosis and treatment of hormone defects and hypoglycaemia may be critical for the prevention of significant neurodevelopmental delay. Author disclosure The authors declare no conflicts of interest. References [1]. Barbetti F. D'Annunzio G. [thelancet.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]