*Correspondence: priscilacamar@hotmail.com.
Abstract
Case Presentation: The subject of the study was a 15-years-old girl in the ninth grade of elementary
school. She was diagnosed with isovaleric acidemia in the neonatal period through
screening tests performed. Despite her being treated with L-carnitine, Biotin, L-Glycine
and Metabolic Formula for her pathology, since entering school, the patient had performed
poorly, especially in language and calculation subjects. Furthermore, she had difficulty
making friends with people the same age as her and was socially isolated. The patient
was then diagnosed with mild intellectual disability.
Discussion: Isovaleric acidemia (IVA) is a hereditary metabolic disorder in which there is a
inadequacy of isovaleryl-CoA dehydrogenase, an enzyme that catalyzes the third step
in leucine catabolism. This metabolic alteration leads to an accumulation of isovaleric
acid, isovaleryl-carnitine, 3-hidroxyisovaleric acid and isovalerylglycine. There
are two forms of IVA, an acute and a chronic form. It may present as an acute episode
of metabolic acidosis causing a drop in consciousness, coma, and death. The chronic
form is associated with episodes of metabolic decompensation in catabolic states,
manifesting itself through delayed neuropsychomotor development, which may not be
present until the child is a year old. Although IVA is, largely, a metabolic disease,
it can be presented with other clinical features. Some studies have shown that it
can be associated with neurological deficits, such as motor syndromes and cognitive
disabilities.
Final Comments: Isovaleric acidemia has a wide range of clinical forms of presentation, and there
are forms that are asymptomatic or with mild cognitive changes. In our patient, it
started a standard course, but later on the disorder evolved with a mild intellectual
disability. The purpose of this report is to show an uncommon finding in an organic
aciduria.
