Visit Metagene.de!
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
mutation in the DBH gene
symptoms
delay in opening eyes (postnatal)
enuresis nocturna
exercise intolerance
high arched palate
hypoglycemia
hypotension
hypothermia
hypotonia
nasal stuffiness
ptosis (drooping eyelid)
seizures
laboratory finding
Dopamine0.000.00 increasedurineno data
Dopamine increasedplasmaadolescence
Dopamine increasedcerebrospinal fluidadolescence
Adrenaline0.000.00 decreasedurineno data
Adrenaline decreasedplasmaadolescence
Adrenaline decreasedcerebrospinal fluid
Noradrenaline0.000.00 decreasedurineno data
Noradrenaline decreasedplasma
Noradrenaline decreasedcerebrospinal fluid
Vanillylmandelic acid (VMA)0.000.00 decreasedurineadolescence
Homovanillic acid0.000.00 increasedurineadolescence
Homovanillic acid increasedcerebrospinal fluidadolescence
Glucose normal-decreasedplasmainfancy
3-O-methyldopa normal-increasedplasmaadolescence
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
Gailus S,et al.Insights into lysosomal cobalamin trafficking: lessons learned from cblF diseaseJ Mol Med (Berl)885459-4662010
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
Rutsch F,et al.LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolismJ Inherit Metab Dis341121-1262011
Rutsch F,et al.Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolismNat Genet412234-2392009