Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency (LCHAD DEFICIENCY)

Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency(来自ICD-11)

别称:

Lchad Deficiency

Long-Chain 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency

Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Aflp

Trifunctional Protein Deficiency, Type 1

Fatty Liver, Acute, of Pregnancy

Acute Fatty Liver of Pregnancy

Lchadd

Trifunctional Protein Deficiency with Myopathy and Neuropathy

3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency

Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency

Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency

Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency

Maternal Acute Fatty Liver of Pregnancy

Trifunctional Protein Deficiency Type 1

Hellp Syndrome, Maternal, of Pregnancy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as lchad deficiency, is related to mitochondrial trifunctional protein deficiency 1 and abdominal obesity-metabolic syndrome 1, and has symptoms including myalgia and weakness. An important gene associated with Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADHA (Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Glycerin and (3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium have been mentioned in the context of this disorder. Affiliated tissues include liver and eye, and related phenotypes are photophobia and hypoglycemia

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