Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0040822 (
tremor
)
18,428
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report a child with a systemic biopterin synthesis defect due to an absence of
6-pyruvoyl-tetrahydropterin synthase
who had an unusual presentation, with three episodes of coarse "rubral-like"
tremor
in arms and legs orofacial dyskinesia between the ages of 3 and 6 months. Response to levodopa therapy and CSF neurotransmitter metabolite concentrations before and after therapy suggests that his clinical syndrome resulted from a secondary dopamine deficiency.
...
PMID:Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect. 204 45
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in the phenylalanine hydroxylase (
PAH
) gene or by defects in the tetrahydrobiopterin (BH4) synthesis pathway. Here, by positional cloning, we report that the
6-pyruvoyl-tetrahydropterin synthase
(
PTPS
) gene, encoding a key enzyme of BH4 biosynthesis, is responsible for the
al
c
(albino C) mutation that displays pale body color, head
shaking
, and eventually lethality after the first molting in silkworm. Compared to wild type, the
al
c
mutant produced more substrates (phenylalanine (Phe) and tyrosine (Tyr)) and generated less DOPA and dopamine. Application of 2,4-diamino-6-hydroxypyrimidine (DAHP) to block BH4 synthesis in the wild type effectively produced the
al
c
-like phenotype, while BH4 supplementation rescued the defective body color and lethal phenotype in both
al
c
and DAHP-treated individuals. The detection of gene expressions and metabolic substances after drugs treatments in
al
c
and normal individuals imply that silkworms and humans have a high similarity in the drugs metabolic features and the gene pathway related to BH4 and the dopamine biosynthesis. We propose that the
al
c
mutant could be used as an animal model for drug evaluation for BH4-deficient PKU.
...
PMID:Disruption of PTPS Gene Causing Pale Body Color and Lethal Phenotype in the Silkworm, Bombyx mori. 2959 27
