SCIENTIFIC BACKGROUND

IVD

Isovaleric acidemia is a severe autosomal recessive metabolic disease caused by pathogenic variants in the IVD gene. The enzyme isovaleryl-CoA dehydrogenase mediates the degradation of isovaleric acid. In the presence of enzyme deficiency, isovaleric acid and its derivatives accumulate, leading to an encephalopathic clinical picture with metabolic acidosis and hyperammonemia. The symptoms range in severity from poor feeding and drinking, vomiting, and lethargy, to progressive neurologic symptomatology with cerebral seizures and coma. The onset of symptomatology depends on the severity of the enzyme deficiency.

 

Diagnosis of isovaleric acidemia is part of newborn screening. If the findings are abnormal, the diagnosis can be confirmed by molecular genetics. With early diagnosis and the rapid initiation of an appropriate diet and carnitine supplementation, the prognosis for unimpaired development of the child is good, if metabolic derangements can be prevented.

 

References
Vockley and Ensenauer 2006, Am J Med Genet C Semin Med Genet 142C:95-103

GENES

IVD

ASSOCIATED TESTS

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