Overview
Aminoaciduria is a finding that may indicate an underlying health condition requiring clinical evaluation.
Associated Conditions
Conditions associated with this symptom based on HPO disease-phenotype annotations.
Galactose epimerase deficiency
Very frequent (80-99%)
Hereditary orotic aciduria
Very frequent (80-99%)
Juvenile nephropathic cystinosis
Frequent (30-79%)
Proximal renal tubular acidosis
Occasional (5-29%)
Glutamate-cysteine ligase deficiency
Very frequent (80-99%)
Argininosuccinate lyase deficiency
Very frequent (80-99%)
Xeroderma pigmentosum
Occasional (5-29%)
Familial methionine malabsorption
Glutamate formiminotransferase deficiency
Infantile nephropathic cystinosis
Very frequent (80-99%)
Cytochrome-c oxidase deficiency
Lowe syndrome
Very frequent (80-99%)
Ornithine carbamoyltransferase deficiency
Very frequent (80-99%)
Zellweger syndrome
Wilson's disease
Occasional (5-29%)
Deficiency of glycerate kinase
Deficiency of uridyl transferase
Deficiency of 3-hydroxyisobutyryl CoA hydrolase
Cystinosis
Very frequent (80-99%)
Westphal-Strumpell syndrome
Occasional (5-29%)
Leucocyte adhesion deficiency - type 2
Excluded (<1%)
Type I renal tubular acidosis
Occasional (5-29%)
Adult Fanconi syndrome
Always present (100%)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
3-Hydroxyisobutyric aciduria
Quick Facts
- SNOMED CT
- 35912001
- UMLS CUI
- C0238621
- Fully Specified Name
- Aminoaciduria (finding)
- Associated Conditions
- 25
- Diagnostic Tests
- 0
This information is for educational purposes only. If you are experiencing symptoms, please consult a healthcare provider for proper evaluation and diagnosis.