Neurological disease in a child with carnosinase deficiency

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

Research output: Contribution to journalArticle

9 Citations (Scopus)

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
StatePublished - 1981
Externally publishedYes

Fingerprint

Carnosine
Nerve Tissue
Polyneuropathies
Mentally Disabled Persons
Meat
Urine
Diet
Biopsy
Skin
Liver
Serum
Homocarnosinosis
aminoacyl-histidine dipeptidase

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Wisniewski, K., Fleisher, L., Rassin, D., & Lassmann, H. (1981). Neurological disease in a child with carnosinase deficiency. Neuropediatrics, 12(2), 143-151.

Neurological disease in a child with carnosinase deficiency. / Wisniewski, K.; Fleisher, L.; Rassin, D.; Lassmann, H.

In: Neuropediatrics, Vol. 12, No. 2, 1981, p. 143-151.

Research output: Contribution to journalArticle

Wisniewski, K, Fleisher, L, Rassin, D & Lassmann, H 1981, 'Neurological disease in a child with carnosinase deficiency', Neuropediatrics, vol. 12, no. 2, pp. 143-151.
Wisniewski K, Fleisher L, Rassin D, Lassmann H. Neurological disease in a child with carnosinase deficiency. Neuropediatrics. 1981;12(2):143-151.
Wisniewski, K. ; Fleisher, L. ; Rassin, D. ; Lassmann, H. / Neurological disease in a child with carnosinase deficiency. In: Neuropediatrics. 1981 ; Vol. 12, No. 2. pp. 143-151.
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