THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE); THMD4

Question 1

What is  THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE); THMD4?

Accepted Answer

rare
autosomal recessive
mutation in the SLC25A19 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Polyneuropathie, progressive, mit bilateraler striataler Nekrose

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613710

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial thiamine pyrophosphate carrier

Disease	THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE); THMD4
Synonym	BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY
OMIM	613710 OMIM = Online Mendelian Inheritance of Men
Orphanet	217396
Protein (UniProt)	Mitochondrial thiamine pyrophosphate carrier
Gene locus	17q25.1
ICD
Summary	rare autosomal recessive mutation in the SLC25A19 gene
Laboratory findings	L-Lactic acid inc (cerebrospinal fluid)
Symptoms	basal ganglia, changes, lesions, calcifications (MRI, CT) contractures, joints defect of walking, running, rising or climbing dystonia encephalopathy hand and/or feet deformities hyporeflexia lethargy, drowsiness, apathy MRI, brain, abnormalities [-] muscle weakness neuropathy onset, childhood skeletal changes, skeletal abnormalities