PubMed Health⌕ Search

PubMed · 902434

Normal values for serum dopamine-beta-hydroxylase activity.

Abstract

The source did not provide an abstract. Follow the original record for more information.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

K Fujita, K Maruta, R Teradaira, H Beppu, M Ikegame, T Nagatsu, T Kato. 1977. Normal values for serum dopamine-beta-hydroxylase activity.. https://pubmed.ncbi.nlm.nih.gov/902434/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

Congenital dopamine-beta-hydroxylase deficiency in humans.

Dopamine-beta-hydroxylase (DbetaH) deficiency is a rare autosomal dominant disorder. Due to the absence of DbetaH, there is a blocked conversion of dopamine into norepinephrine. The biochemical hallmark of this syndrome consists of a complete absence of plasma norepinephrine and epinephrine levels in conjunction with an increased plasma dopamine level. Several mutations in the gene that encodes for DbetaH have been described. Up to now, worldwide, 12 patients have been reported. The most important clinical feature is a severe orthostatic hypotension. In addition, several other clinical features like blepharoptosis, hyperflexible joints, high palate, sluggish deep tendon reflexes, and a mild normocytic anemia have been described. The only effective treatment of DbetaH deficiency is L-threo-3,4-dihydroxyphenylserine (DOPS). DOPS is converted directly into norepinephrine. Treatment with DOPS results in a sustained relief of orthostatic symptoms.

Dopamine beta-Hydroxylase↗

No association between a putative functional promoter variant in the dopamine beta-hydroxylase gene and schizophrenia.

OBJECTIVE: Disturbances in catecholamine transmission have been implicated in schizophrenia. Dopamine beta-hydroxylase catalyses the conversion of dopamine to norepinephrine in noradrenergic cells. We attempted to investigate a putative functional promoter polymorphism in the dopamine beta-hydroxylase gene (DBH) for association with schizophrenia. METHODS: Unrelated schizophrenic patients (n=155) and control subjects (n=436) were analysed with regard to the DBH -1021 C/T variant. RESULTS: No significant allele or genotype differences were found. CONCLUSIONS: The present results do not support a major involvement of the DBH gene in schizophrenia in the Swedish population investigated.

Dopamine beta-Hydroxylase↗