Isovaleryl-CoA dehydrogenase deficiency
- Synonyms
- ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY; IVD DEFICIENCY; Isovaleric acidemia
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Individuals with clinical manifestations of isovaleric acidemia (IVA) have either classic IVA identified on newborn screening or classic IVA with a later diagnosis due to a missed diagnosis or later onset of clinical manifestations. Classic IVA is characterized by acute metabolic decompensations (vomiting, poor feeding, lethargy, hypotonia, seizures, and a distinct odor of sweaty feet). Acute metabolic decompensations are typically triggered by fasting, (febrile) illness (especially gastroenteritis), or increased protein intake. Clinical deterioration often occurs within hours to days after birth. Additional manifestations of classic IVA include developmental delay, intellectual disability and/or impaired cognition, epilepsy, and movement disorder (tremor, dysmetria, extrapyramidal movements). Early treatment in those identified by newborn screening can significantly reduce morbidity and mortality in individuals with classic IVA.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Ulrike Mütze
- Anna Reischl-Hajiabadi
- Stefan Kölker
- view full author information
Available tests
77 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (77 available)
Biochemical Genetics Tests
Genes V体育官网 - See tests for all associated and related genes
Also known as: ACAD2, IVDH, IVD
Summary: isovaleryl-CoA dehydrogenase
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- VSports - Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the nervous system
- V体育2025版 - Constitutional symptom
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5 Acylcarnitine, Isovaleric Acidemia, 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, Isovaleric Acidemia: Increased C5 (isolated), 2022
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