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Summary
DOPAMINE BETA-HYDROXYLASE DEFICIENCY (DHB)
DOPAMINE BETA-HYDROXYLASE, PLASMA DBH DOPAMINE BETA-MONOOXYGENASE
223360
OMIM = Online Medalian Inheritance of Men
230
9q34.2
rare
autosomal recessive
symptoms
delay in opening eyes (postnatal)
enuresis nocturna
hypoglycemia
hypotension
hypothermia
hypotonia
nasal stuffiness
ptosis (drooping eyelid)
seizures
laboratory finding
Dopamine0.000.00 increasedurineno data
Dopamine increasedplasma
Dopamine increasedspinal fluid
Adrenaline0.000.00 decreasedurineno data
Adrenaline decreasedplasma
Adrenaline decreasedspinal fluid
Noradrenaline0.000.00 decreasedurineno data
Noradrenaline decreasedplasma
Noradrenaline decreasedspinal fluid
3-Methoxy-4-hydroxymandelic acid0.000.00 decreasedurineno data
Homovanillic acid0.000.00 increasedurineno data
Homovanillic acid increasedspinal fluid
Literature
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Shin YSGalactose Metabolites and Disorders of Galactose MetabolismTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00267-2831991
Jackson AAPersaud C, Hall M, Smith S, Evans N, Rutter NUrinary excretion of 5-L-oxoproline (pyroglutamic acid) during early life in term and preterm infantsArch Dis Child Fetal Neonatal Ed.760F152-F1571997
Danks MDDisorders of Copper transportThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202211-22351995
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Shin YSGalactose Metabolites and Disorders of Galactose MetabolismTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00267-2831991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991