Thiamine Metabolism Dysfunction Syndrome 5 (THMD5)

Thiamine Metabolism Dysfunction Syndrome 5(来自ICD-11)

别称:

Thmd5

Thiamine Metabolism Dysfunction Syndrome 5, Episodic Encephalopathy Type

Encephalopathy, Episodic, Due to Thiamine Pyrophosphokinase Deficiency

Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency

Episodic Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency

Thiamine Metabolism Dysfunction Syndrome, Type 5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Thiamine Metabolism Dysfunction Syndrome 5, also known as thmd5, is related to childhood encephalopathy due to thiamine pyrophosphokinase deficiency and amed syndrome, digenic, and has symptoms including ataxia and muscle spasticity. An important gene associated with Thiamine Metabolism Dysfunction Syndrome 5 is TPK1 (Thiamin Pyrophosphokinase 1). Affiliated tissues include caudate nucleus and brain, and related phenotypes are increased urine alpha-ketoglutarate concentration and dystonia

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