Neurological disease in a child with carnosinase deficiency

K. Wisniewski, L. Fleisher, D. Rassin, H. Lassmann

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Carnosinase deficiency presented as a progressive neurological problem with sensory polyneuropathy in a 12-year-old male. Carnosinuria was present, even on a meat-free diet, although carnosinemia was not observed. An increased amount of unmetabolized carnosine was found in the urine after a carnosine load. Serum and tissue (liver and nerve) from the patient showed deficient carnosinase activity. Morphometric and fine structural studies on the nerve and skin biopsies are presented, as is a review of the literature on carnosinase deficiency in mentally retarded patients.

Original languageEnglish (US)
Pages (from-to)143-151
Number of pages9
JournalNeuropediatrics
Volume12
Issue number2
DOIs
StatePublished - Jan 1 1981

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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