ArticleCureus2024
Isovaleric Acidemia in Jordan.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
5 authors.
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Abstract
backgroundIsovaleric acidemia (IVA) was the first condition to be recognized as an organic acid disorder. It is marked by metabolic ketoacidosis with an unexplained anion gap. This study examines IVA in Jordan, laying the groundwork for future studies. Furthermore, it seeks to enhance the understanding of clinical characteristics and outcomes in affected individuals.
methodThis case series study includes all isovaleric acidemia diagnoses at the metabolic unit of the Queen Rania Al Abdullah Hospital for Children (QRHC) in Amman, Jordan, from 2010 to 2023. The study encompassed sociodemographic features, clinical and laboratory results, familial history, and parental consanguinity.
resultsOur cohort was composed of 21 individuals (10 males and 11 females), who presented IVA at an average age of 3.1 years. Positive family history and parental consanguinity were observed in 23.8% and 75% of the cases, respectively. Vomiting was the most prevalent symptom (57.1%), and encephalopathy occurred in 33.3%. Laboratory results showed acidosis (81%), hyperammonemia (71.4%), and hypoglycemia (14.3%).
conclusionsThe early initiation of treatment for organic acid disorders carries a more favorable prognosis. Therefore, we strongly recommend for implementing newborn screening to overcome diagnostic challenges and delays. For effective intervention, healthcare professionals should have a comprehensive understanding of the clinical manifestations of IVA and be proficient in interpreting biochemical test results.
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