Thiamine Metabolism Dysfunction Syndrome 4 (THMD4)

Alias:

Bilateral Striatal Degeneration and Progressive Polyneuropathy

Thmd4

Thiamine Metabolism Dysfunction Syndrome 4, Bilateral Striatal Degeneration and Progressive Polyneuropathy Type

Progressive Demyelinating Neuropathy with Bilateral Striatal Necrosis

Striatal Necrosis, Bilateral, and Progressive Polyneuropathy

Progressive Polyneuropathy with Bilateral Striatal Necrosis

Striatal Necrosis, Bilateral and Progressive Polyneuropathy

Thiamine Metabolism Dysfunction Syndrome, Type 4

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Thiamine Metabolism Dysfunction Syndrome 4, also known as bilateral striatal degeneration and progressive polyneuropathy, is related to microcephaly, amish type and polyneuropathy, and has symptoms including lethargy and weakness. An important gene associated with Thiamine Metabolism Dysfunction Syndrome 4 is SLC25A19 (Solute Carrier Family 25 Member 19). Affiliated tissues include brain and caudate nucleus, and related phenotypes are increased csf lactate and difficulty walking

Related ID：

MALACARDS：THM014

OMIM：613710

MESH：D001480