Hartnup disease
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Synopsis

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.
Codes
ICD10CM:E72.02 – Hartnup's disease
SNOMEDCT:
80902009 – Neutral 1 amino acid transport defect
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Pellagra
- Porphyria (eg, variegate porphyria, porphyria cutanea tarda)
- Citrullinemia
- Ataxia-telangiectasia
- Episodic ataxia (eg, type 2)
- Systemic lupus erythematosus
- Xeroderma pigmentosa
- Carcinoid syndrome
- Mitochondrial disorders (eg, pyruvate carboxylase deficiency)
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Last Reviewed:10/22/2018
Last Updated:06/19/2022
Last Updated:06/19/2022