Aspartoacylase deficiency: The enzyme defect in Canavan disease

Reuben Matalon, R. Kaul, J. Casanova, K. Michals, A. Johnson, I. Rapin, P. Gashkoff, M. Deanching

Research output: Contribution to journalArticle

75 Citations (Scopus)

Abstract

Spongy degeneration of the brain, Canavan disease (CD; McKusick 27190) is an autosomal recessive leukodystrophy (van Bogaert and Bertrand, 1967). Recently, Matalon et al. (1988) have reported three children with CD who had excessive amounts of N-acetylaspartic acid (NAA) in urine, blood and brain, and deficiency of aspartoacylase (EC 3.5.1.15) in cultured skin fibroblasts and brain. We have expanded our studies to other children with CD and patients with leukodystrophies other than CD. In addition, we have purified aspartoacylase from human in bovine brain and studied the distribution of aspartoacylase and NAA in brain.

Original languageEnglish (US)
Pages (from-to)329-331
Number of pages3
JournalJournal of Inherited Metabolic Disease
Volume12
Issue numberSUPPL. 2
StatePublished - 1989
Externally publishedYes

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Canavan Disease
Brain
Enzymes
Brain Diseases
Fibroblasts
Urine
Skin

ASJC Scopus subject areas

  • Endocrinology
  • Genetics
  • Genetics(clinical)

Cite this

Matalon, R., Kaul, R., Casanova, J., Michals, K., Johnson, A., Rapin, I., ... Deanching, M. (1989). Aspartoacylase deficiency: The enzyme defect in Canavan disease. Journal of Inherited Metabolic Disease, 12(SUPPL. 2), 329-331.

Aspartoacylase deficiency : The enzyme defect in Canavan disease. / Matalon, Reuben; Kaul, R.; Casanova, J.; Michals, K.; Johnson, A.; Rapin, I.; Gashkoff, P.; Deanching, M.

In: Journal of Inherited Metabolic Disease, Vol. 12, No. SUPPL. 2, 1989, p. 329-331.

Research output: Contribution to journalArticle

Matalon, R, Kaul, R, Casanova, J, Michals, K, Johnson, A, Rapin, I, Gashkoff, P & Deanching, M 1989, 'Aspartoacylase deficiency: The enzyme defect in Canavan disease', Journal of Inherited Metabolic Disease, vol. 12, no. SUPPL. 2, pp. 329-331.
Matalon R, Kaul R, Casanova J, Michals K, Johnson A, Rapin I et al. Aspartoacylase deficiency: The enzyme defect in Canavan disease. Journal of Inherited Metabolic Disease. 1989;12(SUPPL. 2):329-331.
Matalon, Reuben ; Kaul, R. ; Casanova, J. ; Michals, K. ; Johnson, A. ; Rapin, I. ; Gashkoff, P. ; Deanching, M. / Aspartoacylase deficiency : The enzyme defect in Canavan disease. In: Journal of Inherited Metabolic Disease. 1989 ; Vol. 12, No. SUPPL. 2. pp. 329-331.
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