PARKINSONISM-DYSTONIA, INFANTILE, 1; PKDYS1

Question 1

What is  PARKINSONISM-DYSTONIA, INFANTILE, 1; PKDYS1?

Accepted Answer

rare

autosomal recessive

mutation in the SLC6A3 gene

- early onset (infancy)

- later onset (childhood - adulthood)

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 613135

Question 3

Which enzymes are involved?

Accepted Answer

Sodium-dependent dopamine transporter

Disease	PARKINSONISM-DYSTONIA, INFANTILE, 1; PKDYS1
Synonym	DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DTDS
OMIM	613135 OMIM = Online Mendelian Inheritance of Men
Orphanet	238455
Protein (UniProt)	Sodium-dependent dopamine transporter
Gene locus	5p15.33
ICD
Summary	rare autosomal recessive mutation in the SLC6A3 gene - early onset (infancy) - later onset (childhood - adulthood)
Laboratory findings	3-Methoxy-4-hydroxyphenylglycol (MHPG, MOPEG) inc (cerebrospinal fluid) Homovanillic acid (HVA) inc (cerebrospinal fluid)
Symptoms	chorea or athetosis constipation developmental delay drooling dyskinesia dystonia eye movements, abnormal feeding difficulties, poor feeding gastroesophageal reflux irritability oculogyric crisis onset, adolescent onset, childhood onset, infancy Parkinsonism pyramidal signs tremor or twitching