MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): A new X-linked mitochondrial disorder

Esther Leshinsky-Silver, Ami Zinger, Chaim N. Bibi, Varda Barash, Menachem Sadeh, Dorit Lev, Tally Lerman Sagie

Research output: Contribution to journalArticlepeer-review

Abstract

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1, 3 and 4 of the mitochondrial electron transport chain. Histological staining showed mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a mitochondrial disorder and one of the very few X-linked mitochondrial syndromes.

Original languageEnglish
Pages (from-to)226-230
Number of pages5
JournalEuropean Journal of Human Genetics
Volume10
Issue number4
DOIs
StatePublished - 2002
Externally publishedYes

Keywords

  • MEHMO
  • Respiratory chain
  • X-linked mental retardation
  • mtDNA

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