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

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