Clinical symptoms are highly variable but may appear in infancy with failure to thrive, intermittent ataxia, tremor, and photosensitive dermatitis. Seizures have also been reported.
Others may remain asymptomatic or have symptoms that occur intermittently as "attacks" triggered by poor nutrition, sunlight, illness, stress, and certain medications.
Patients may also have short stature, psychiatric illness, and/or intellectual disability.
E72.02 – Hartnup's disease
80902009 – Neutral 1 amino acid transport defect
Differential Diagnosis & Pitfalls