RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
Your saved research and appointment questionsView recorded trial and retraction changes
Isovaleric Acidaemia: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Isovaleric Acidemia: Case-Based Genotype–Phenotype Correlation and Review of Reported Variants
Sanjhi Paliwal et al., Indian Journal of Clinical Biochemistry (24 July 2026)
https://doi.org/10.1007/s12291-026-01435-3
- 2.
Neurological Outcomes of Newborn Screening-Identified Isovaleric Acidemia: A Case Series Exploring Initial C5 Acylcarnitine Levels.
Kiss Sharmila et al., JIMD reports (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/42164418/
- 3.
Metformin-glycine combination for metabolic rewiring in isovaleric acidemia
MedicOath Autonomous Discovery Engine, Zenodo (CERN European Organization for Nuclear Research) (28 April 2026)
https://doi.org/10.5281/zenodo.19833045
- 4.
Metformin-glycine combination for metabolic rewiring in isovaleric acidemia
MedicOath Autonomous Discovery Engine, Zenodo (CERN European Organization for Nuclear Research) (28 April 2026)
https://doi.org/10.5281/zenodo.19833046
- 5.
Rasayana compounds for mitochondrial biogenesis enhancement in isovaleric acidemia
MedicOath Autonomous Discovery Engine, Zenodo (CERN European Organization for Nuclear Research) (28 April 2026)
https://doi.org/10.5281/zenodo.19833617
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Isovaleric Acidaemia
Isovaleric acidaemia is a rare inherited disorder in which the body cannot fully break down the protein building block leucine. Isovaleric acid then builds up, which can cause vomiting, poor feeding, drowsiness and a distinctive sweaty-feet odour, sometimes with dangerous metabolic crises. It is often picked up on newborn screening. Management involves a leucine-restricted diet, carnitine or glycine supplements, and an emergency plan for illness.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Common Questions
What is Isovaleric Acidaemia?
Isovaleric acidaemia is a rare inherited disorder in which the body cannot fully break down the protein building block leucine. Isovaleric acid then builds up, which can cause vomiting, poor feeding, drowsiness and a distinctive sweaty-feet odour, sometimes with dangerous metabolic crises. It is often picked up on newborn screening. Management involves a leucine-restricted diet, carnitine or glycine supplements, and an emergency plan for illness.
How many clinical trials are available for Isovaleric Acidaemia?
No clinical trials are currently indexed for Isovaleric Acidaemia. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Isovaleric Acidaemia come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
Get research updates
Monthly email when new findings are published for Isovaleric Acidaemia.
Your email and selected disease are stored for these updates. Unsubscribe any time. Privacy and deletion.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.