Isovaleric acidemia

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Isovaleric acidemia

Synonyms: Isovaleric acid CoA dehydrogenase deficiency

A rare autosomal recessive organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent acute metabolic decompensation. During metabolic episodes urine analysis demonstrates elevated isovaleric acid derivatives.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Isovaleric acidemia?

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Advocacy Organizations

Organic Acidemia Association

Our mission is to empower families and health care professionals with knowledge in these disorders. We support early intervention through expanded newborn screening, solicit contributions, and distribute funding that supports research toward improved treatment, and eventual cures in the areas of Organic Acid disorders.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.