THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE); THMD4 | |
BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY | |
613710
OMIM = Online Mendelian Inheritance of Men | |
217396 | |
Mitochondrial thiamine pyrophosphate carrier | |
17q25.1 |
|
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 |