Coincident neuraminidase and aspartoacylase deficiency associated with chromosome 9Q paracentric inversion in a Saudi family.
A large, consanguineous Saudi family with three members with sialidosis type 1 and five members with infantile central nervous system spongy degeneration of the brain (ICNSSD, or Canavan-Bertrand-van Bogaert disease) is described. The patients with sialidosis had normal aspartoacylase activity, while neuraminidase activity in the patients with ICNSSD was reduced. All patients had normal carboxypeptidase activity in their fibroblasts. In an additional member there was photic-induced epilepsy, but he had normal enzymes. Two of the patients and one normal brother, but not the parents, had pericentric inversion of chromosome 9q. We postulate that an unidentified gene function is responsible for varied expression of these neurodegenerative diseases in this family.
Gascon
G G
GG
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Youssef
N G
NG
Subramanyam
S B
SB
Ozand
P T
PT
D000581:Amidohydrolases / Q000172:deficiency*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics*; D002268:Carboxypeptidases / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D007446:Chromosome Inversion; D002899:Chromosomes, Human, Pair 9; D003241:Consanguinity; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics; D005260:Female; D016537:Gangliosidosis, GM1 / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009439:Neuraminidase / Q000172:deficiency*; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype; D012529:Saudi Arabia
D009439:Neuraminidase; D002268:Carboxypeptidases; D000581:Amidohydrolases; C019751:aspartoacylase