Rare diseases · Sign or symptom
Aminoaciduria
High urine amino acid levels
HP:0003355
What it means
An increased concentration of an amino acid in the urine.
Rare diseases that can present with this30
Very common80–99%
18- Alkaptonuria
- Argininosuccinic aciduria
- Camptodactyly-taurinuria syndrome
- Carbamoyl-phosphate synthetase 1 deficiency
- Cystinosis
- Dent disease
- Encephalopathy due to sulfite oxidase deficiency
- Galactose epimerase deficiency
- Glutamate-cysteine ligase deficiency
- Hereditary orotic aciduria
- Infantile nephropathic cystinosis
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Neonatal severe primary hyperparathyroidism
- Oculocerebrorenal syndrome of Lowe
- Ornithine transcarbamylase deficiency
- Seizures-intellectual disability due to hydroxylysinuria syndrome
- Sialidosis type 1
- Stimmler syndrome
Common30–79%
3Sometimes5–29%
8The 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: Abnormal urinary amino-acid findings · Hyperaminoaciduria · Increased levels of animo acids in urine
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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.