DOPAMINE-SEROTONIN VESICULAR TRANSPORT DEFECT

Question 1

What is  DOPAMINE-SEROTONIN VESICULAR TRANSPORT DEFECT?

Accepted Answer

rare
autosomal recessive?
mutation in SLC18A2

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Störung des zerebralen vesikulären Dopamin-Serotonin-Transportes

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 193001

Question 4

Which enzymes are involved?

Accepted Answer

Synaptic vesicular amine transporter

Disease	DOPAMINE-SEROTONIN VESICULAR TRANSPORT DEFECT
Synonym	SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE), MEMBER 2; SLC18A2
OMIM	193001 OMIM = Online Mendelian Inheritance of Men
Orphanet	352649
Protein (UniProt)	Synaptic vesicular amine transporter
Gene locus	10q25.3
ICD	G25.8
Summary	rare autosomal recessive? mutation in SLC18A2
Laboratory findings	5-Hydroxyindolacetic acid (5-HIAA) inc (urine) Dopamine dec (urine) Homovanillic acid (HVA) inc (urine)
Symptoms	abnormal movement ataxia cognitive impairment developmental delay dysarthria dystonia hypotonia lethargy, drowsiness, apathy 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