Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency (ECHS1D)

Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency(来自ICD-11)

别称:

Echs1d

Enoyl-Coa Hydratase 1 Deficiency, Short-Chain, Mitochondrial

Mitochondrial Short-Chain Enoyl-Coa Hydratase Deficiency

Echs1 Deficiency

Sceh Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency, also known as echs1d, is related to leigh syndrome and lactic acidosis. An important gene associated with Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency is ECHS1 (Enoyl-CoA Hydratase, Short Chain 1). Affiliated tissues include brain and eye, and related phenotypes are hearing impairment and increased serum lactate

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