MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.
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.
Leshinsky-Silver
Esther
E
Molecular Genetics laboratory and Institute of Physiologic Hygiene, Wolfson Medical Center, Holon, Israel.
Zinger
Ami
A
Bibi
Chaim N
CN
Barash
Varda
V
Sadeh
Menachem
M
Lev
Dorit
D
Sagie
Tally Lerman
TL
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
D004272:DNA, Mitochondrial