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Hartnup disease
Summary
- Synonym
-
- Neutral 1 amino acid transport defect
- deficiency of tryptophan oxygenase
- neutral amino acid transport defect
- Definition
- 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.
- Super Class
- amino acid metabolic disorder
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35475 | Alpha-L-iduronidase |
