Loading...
Disclaimer: Informational only — not medical advice. AI hypotheses are not clinically validated. Medic Oath is for informational and educational purposes only — not medical advice. AI-generated hypotheses have not been clinically validated. Always consult a qualified healthcare professional. Privacy · Terms
A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported.
No hypotheses generated for this disease yet.
The autonomous pipeline will investigate this disease when evidence emerges.