24. Clinical and laboratory characteristics of acute episodes in neonatal fatty acid oxidation disorders
Main Article Content
Abstract
Fatty acid oxidation disorders (FAOD) are rare autosomal recessive metabolic conditions caused by genetic variants that impair the function of enzymes and proteins involved in fatty acid transport and metabolism within the mitochondria. Neonates with FAOD often experience delayed diagnosis due to nonspecific symptoms and insufficient newborn screening, leading to high mortality rates or severe complications. A study conducted at the Vietnam National Children’s Hospital from January 2017 to September 2023 analyzed 48 patients, revealing a median age of symptom onset of 2.4 days old and a median diagnostic age of 10.9 days old. Common clinical features included respiratory failure (75.0%), lethargy (66.7%), cyanosis (54.2%), circulatory failure (54.0%), and poor feeding (52.1%) Laboratory findings frequently observed were elevated serum lactate levels (89.6%), hyperammonemia (81.8%), elevated glutamic oxaloacetic transaminase (GOT) levels (92.7%), metabolic acidosis (43.3%), and hypoglycemia (33.3%). A family history of FAOD, coupled with the sudden onset of symptoms and characteristic biochemical abnormalities are key indicators of the disorder in newborns.
Article Details
Keywords
Fatty Acid Oxidation Disorders, Mitochondrial β-oxidation, Neonatal Hypoglycemia
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