Cystathioninuria: nature of the defect.

Science (New York, N.Y.) ·Vol. 149 ·No. 3688 ·1965-09-03 ·Pages 1095-6

Frimpter GW

Abstract

A homogenate of liver obtained by biopsy from two patients with cystathioninuria, an inborn error of metabolism, cleaved radioactive cystathionine only slightly until an excess of pyridoxal phosphate was added. The apoenzyme failed to bind the coenzyme normally. Pyridoxine therapy of familial cystathioninuria thus has a sound basis.

MeSH Terms

Amino Acid Metabolism, Inborn Errors Child Child, Preschool Cystine Humans Hydro-Lyases In Vitro Techniques Liver/metabolism Pyridoxal Phosphate Radiometry Subcellular Fractions Tritium Urine

Chemicals

Tritium Cystine Pyridoxal Phosphate Hydro-Lyases

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Frimpter G W

Article Info

Journal

Science (New York, N.Y.)

Abbr.

Science

ISSN

0036-8075

DOI

10.1126/science.149.3688.1095

Published

1965-09-03

Pages

1095-6

Language

English

Region

United States

NLM ID

0404511

Subset

External Links

PubMed source DOI: 10.1126/science.149.3688.1095 View journal details

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Cystathioninuria: nature of the defect.

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