Open AccessExpert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency
Author(s) -
Xinwen Huang
Publication year - 2022
Publication title -
zhejiang daxue xuebao. yixue ban
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.14
H-Index - 13
ISSN - 1008-9292
DOI - 10.3724/zdxbyxb-2022-0107
Subject(s) - medicine , cardiomyopathy , hypoglycemia , metabolic disorder , carnitine , disease , beta oxidation , heart failure , gastroenterology , newborn screening , myopathy , rhabdomyolysis , endocrinology , pediatrics , insulin , metabolism
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a metabolic disease of long chain fatty acid oxidation. The clinical manifestations are heterogeneous, mainly with heart, liver, skeletal muscle and brain damage, and the onset of which can be from newborn to adult. Cardiomyopathy type is more serious with high mortality. The liver failure type and myopathy type would be potentially lethal, but generally the prognosis is relatively good. Recurrent hypoglycemia, energy metabolism disorder, liver dysfunction, cardiomyopathy and serious arrhythmia are the main causes of death. Most patients can be identified through neonatal screening, and the prognosis is usually good in patients with early diagnosis and treatment. The purpose of this consensus is to standardize the diagnosis, treatment and management of VLCAD deficiency, so as to improve the prognosis of patients and reduce death and disability.