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Summary
THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) THMD4
BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY
613710
OMIM = Online Medalian Inheritance of Men
217396
17q25.1
rare
autosomal recessive
mutation in the SLC25A19 gene
symptoms
basal ganglia, changes
contractures, joints
defect of walking, running, rising or climbing
dystonia
encephalopathy
foot deformities
hyporeflexia
lethargy, drowsiness, malaise or sleep disorder
muscle weakness
neuropathy
onset, childhood
skeletal changes, skeletal abnormalities
laboratory finding
L-Lactic acid increasedcerebrospinal fluid
MRI, brain, abnormalities -
Literature
Papanastasopoulos P,Stebbing JMolecular basis of 5-fluorouracil-related toxicity: lessons from clinical practiceAnticancer Res3441531-15352014