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

How to order

LATEST ARTICLES

Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients f...

Read more

Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced ...

Read more

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited diso...

Read more

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The co...

Read more

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study...

Read more

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a...

Read more

Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to various area...

Read more

February, designated as Cancer Awareness Month, marks a time to reflect on the remarkable progress made in cancer research and to inspire hope for th...

Read more

Introduction Cardiovascular disease (CVD) is a major health issue as it remains a leading cause of death worldwide [1]. CVD is responsible for mor...

Read more

Antimicrobial resistance (AMR) is one of the most pressing global health threats, and accurate identification and surveillance of multidrug-resistant...

Read more