Coincident neuraminidase and aspartoacylase deficiency associated with chromosome 9Q paracentric inversion in a Saudi family.

doi:10.1177/08830738920070011111

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Article

Coincident neuraminidase and aspartoacylase deficiency associated with chromosome 9Q paracentric inversion in a Saudi family.

Journal of child neurology - 1 Apr 1992

Gascon G G, Youssef N G, Subramanyam S B, Ozand P T

Abstract excerpt

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...

Topics

Amidohydrolases
Brain Diseases, Metabolic
Carboxypeptidases
Child
Child, Preschool
Chromosome Inversion
Chromosomes, Human, Pair 9
Consanguinity
Epilepsies, Myoclonic
Female
Gangliosidosis, GM1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Infant

Male

Neuraminidase

Neurologic Examination

Pedigree

Phenotype

Source

Open in PubMed

Identifiers

PMID: 1588018
DOI: 10.1177/08830738920070011111

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1588018-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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