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Science 3 September 1965:
Vol. 149. no. 3688, pp. 1095 - 1096
DOI: 10.1126/science.149.3688.1095
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Articles

Cystathioninuria: Nature of the Defect

George W. Frimpter 1

1 Department of Medicine, New York Hospital-Cornell Medical Center, New York, 10021

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.


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{beta}-Mercaptolactate-Cysteine Disulfide in the Urine of a Mentally Retarded Patient.
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Arch Pediatr Adolesc Med 117, 71-82
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Pyridoxine (B6) Dependency Syndromes.
G. W. FRIMPTER (1968)
Ann Intern Med 68, 1131-1132
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Cystinosis: Combined Clinical Staff Conference at the National Institutes of Health.
J. E. SEEGMILLER, T. FRIEDMANN, H. E. HARRISON, V. WONG, and J. A. SCHNEIDER (1968)
Ann Intern Med 68, 883-905
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CYSTATHIONINURIA.
J. D. FINKELSTEIN, S. H. MUDD, F. IRREVERRE, and L. LASTER (1968)
Arch Pediatr Adolesc Med 115, 388-390
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CYSTATHIONINURIA-Reply.
G. E. GAULL (1968)
Arch Pediatr Adolesc Med 115, 390-391
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Vitamin B6 Deficiency and Dependency in Man.
C. R. SCRIVER (1967)
Arch Pediatr Adolesc Med 113, 109-114
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Cystathioninuria: Management.
G. W. FRIMPTER, A. J. GREENBERG, M. HILGARTNER, and F. FUCHS (1967)
Arch Pediatr Adolesc Med 113, 115-118
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Cystathioninuria.
K. N. F. SHAW, E. LIEBERMAN, R. KOCH, and G. N. DONNELL (1967)
Arch Pediatr Adolesc Med 113, 119-128
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Studies in Cystathioninemia.
S. BERLOW (1966)
Arch Pediatr Adolesc Med 112, 135-142
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Homocystinuria Due to Cystathionine Synthase Deficiency: Combined Clinical Staff Conference at the National Institutes of Health.
L. LASTER, G. L. SPAETH, S. H. MUDD, and J. D. FINKELSTEIN (1965)
Ann Intern Med 63, 1117-1143
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Science. ISSN 0036-8075 (print), 1095-9203 (online)