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A defect in catecholamine metabolism in kinky‐hair disease
Author(s) -
Grover Warren D.,
Henkin Robert I.,
Schwartz Michael,
Brodsky Nancy,
Hobdell Elizabeth,
Stolk Jon M.
Publication year - 1982
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410120309
Subject(s) - dopamine , norepinephrine , catecholamine , endocrinology , medicine , epinephrine , cerebrospinal fluid , chemistry
The measurement of blood and cerebrospinal fluid levels of copper, dopamine β‐hydroxylase, dopamine, norepinephrine, and epinephrine in a patient with kinky‐hair disease indicated a block in the conversion of dopamine to norepinephrine. The decreased activity of dopamine β‐hydroxylase was not corrected by increasing serum copper levels. A second patient with kinky‐hair disease had similar clinical and biochemical findings on initial examination. With oral supplemental copper therapy, the second patient attained levels within the control range for blood and cerebrospinal fluid copper, dopamine β‐hydroxylase, dopamine, and norepinephrine, demonstrating a state of genetic heterogeneity for this syndrome.