title: MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.
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.
authors.affiliation: Molecular Genetics laboratory and Institute of Physiologic Hygiene, Wolfson Medical Center, Holon, Israel.
authors.forename: Esther
authors.initials: E
authors.lastname: Leshinsky-Silver
authors.forename: Ami
authors.initials: A
authors.lastname: Zinger
authors.forename: Chaim N
authors.initials: CN
authors.lastname: Bibi
authors.forename: Varda
authors.initials: V
authors.lastname: Barash
authors.forename: Menachem
authors.initials: M
authors.lastname: Sadeh
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.forename: Tally Lerman
authors.initials: TL
authors.lastname: Sagie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000140:Acidosis, Lactic / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D008040:Genetic Linkage; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics*; D018482:Muscle, Skeletal / Q000201:enzymology / Q000648:ultrastructure; D009765:Obesity / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome
chemical_list: D004272:DNA, Mitochondrial