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Summary
DOPAMINE-SEROTONIN VESICULAR TRANSPORT DEFECT
SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE), MEMBER 2 SLC18A2
193001
OMIM = Online Medalian Inheritance of Men
10q25.3
rare
autosomal recessive?
mutation in SLC18A2
symptoms
abnormal movement
ataxia
developmental delay
dysarthria
dystonia
hypotonia
lethargy, drowsiness, malaise or sleep disorder
oculogyric crisis
onset, childhood
onset, infancy
Parkinsonism
poor or absent head control
profuse nasal and oropharyngeal secretions
ptosis (drooping eyelid)
speech difficulties
sweating
temperature instability
laboratory finding
5-Hydroxyindolacetic acid increasedurine
Dopamine decreasedurine
Homovanillic acid increasedurine
Literature
Nagahara N,et al.Redox regulation of mammalian 3-mercaptopyruvate sulfurtransferaseMethods Enzymol5540229-2542015
Horvath R,et al.Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathyBrain132113165-31742009
Aartsma-Rus A,Ginjaar IB, Bushby KThe importance of genetic diagnosis for Duchenne muscular dystrophyJ Med Genet533145-1532016