Conditions / Genetic
Hartnup disease
info · Genetic · ICD-10: E72.02
An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of th
An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
Signs and symptoms
- Delayed speech and language development
- Cutaneous photosensitivity
- Generalized tonic seizure
- Elevated urinary indoleacetic acid level
- Neutral hyperaminoaciduria
- Hyperactivity
- Attention deficit hyperactivity disorder
- Intellectual disability
- Hypertonia
- Seizure
Also known as: Neutral 1 amino acid transport defect; deficiency of tryptophan oxygenase; neutral amino acid transport defect