A new autosomal recessive syndrome with Zellweger-like manifestations.
A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in Zellweger syndrome: high forehead, broad nasal bridge, epicanthal fold, upslanting palpebral fissures, and micrognathia. In addition to the physical anomalies, they also have severe psychomotor retardation and hypotonia. However, results of peroxisomal studies including very long chain fatty acids and plasmalogen functions, were normal. There was partial deficiency of respiratory chain complexes. We suggest that this is a new autosomal recessive syndrome that could be due to a nuclear-encoded mitochondrial defect.
Ahn
Joe K
JK
Mitochondrial Disease Clinic, Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Lev
Dorit
D
Leshinsky-Silver
Esther
E
Ginzberg
Mira
M
Lerman-Sagie
Tally
T
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005227:Fatty Acids / Q000032:analysis*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D015211:Zellweger Syndrome / Q000175:diagnosis* / Q000235:genetics
D005227:Fatty Acids