Rare diseases · Sign or symptom
Hyperalaninemia
Increased blood alanine
HP:0003348
What it means
An increased concentration of alanine in the blood.
This class referring to the clinical feature Hyperalaninemia and not to the disease entry. Normal alanine blood levels are around 350-400 micromole per liter.
Rare diseases that can present with this15
Common30–79%
8- Hyperprolinemia type 2
- Isolated ATP synthase deficiency
- Lysinuric protein intolerance
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Mitochondrial neurogastrointestinal encephalomyopathy
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase phosphatase deficiency
- Spinocerebellar ataxia with epilepsy
Sometimes5–29%
4The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Increased serum alanine
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.