Abstract | BACKGROUND: METHODS: Plasma from 44 at-risk neonates less than 30 days old were assayed for DA, NE, and other catechols. Of the 44, 19 were diagnosed subsequently with Menkes disease, and 25 were unaffected. RESULTS: Compared to unaffected at-risk infants, those with Menkes disease had high plasma DA (P < 10(-6)) and low NE (P < 10(-6)) levels. Considered alone, neither DA nor NE levels had perfect sensitivity, whereas the ratio of DA:NE was higher in all affected than in all unaffected subjects ( P = 2 x 10(-8)). Analogously, levels of the DA metabolite, dihydroxyphenylacetic acid ( DOPAC), and the NE metabolite, dihydroxyphenylglycol ( DHPG), were imperfectly sensitive, whereas the DOPAC: DHPG ratio was higher in all affected than in all unaffected subjects ( P = 2 x 10(-4)). Plasma dihydroxyphenylalanine ( DOPA) and the ratio of epinephrine (EPI):NE levels were higher in affected than in unaffected neonates (P = 0.0015; P = 0.013). CONCLUSIONS: Plasma DA:NE and DOPAC: DHPG ratios are remarkably sensitive and specific for diagnosing Menkes disease in at-risk newborns. Affected newborns also have elevated DOPA and EPI:NE ratios, which decreased DBH activity alone cannot explain.
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Authors | David S Goldstein, Courtney S Holmes, Stephen G Kaler |
Journal | Neurochemical research
(Neurochem Res)
Vol. 34
Issue 8
Pg. 1464-8
(Aug 2009)
ISSN: 1573-6903 [Electronic] United States |
PMID | 19234788
(Publication Type: Journal Article, Research Support, N.I.H., Intramural)
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Chemical References |
- Biomarkers
- Catechols
- 3,4-Dihydroxyphenylacetic Acid
- Methoxyhydroxyphenylglycol
- 3,4-dihydroxyphenylglycol
- Dopamine
- Norepinephrine
- Epinephrine
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Topics |
- 3,4-Dihydroxyphenylacetic Acid
(blood)
- Biomarkers
- Catechols
(blood)
- Chromatography, High Pressure Liquid
- Dopamine
(blood)
- Epinephrine
(blood)
- Humans
- Infant, Newborn
- Male
- Menkes Kinky Hair Syndrome
(blood, diagnosis, genetics)
- Methoxyhydroxyphenylglycol
(analogs & derivatives, blood)
- Norepinephrine
(blood)
- ROC Curve
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