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Hartnup disease

Epidemiology: rare: 1 in 15,000 newborns Pathology: 1) reduced renal tubular resorption mono-amino & carboxylic- amino acids (renal function otherwise normal) 2) aberrant intestinal transport of mono-amino & carboxylic- amino acids 3) inadequate tryptophan availability limits nicotinamide synthesis; secondary pellagra Genetics: 1) autosomal recessive 2) caused by mutations in the SLC6A19 gene Clinical manifestations: 1) pellagra-like rash (after exposure to sunlight) 2) episodic cerebellar ataxia 3) delirium 4) malnutrition may occur 5) disorder often improves with age 6) clinical variability, may be asymptomatic Laboratory: 1) neutral aminoaciduria 2) hypouricemia Management: 1) nicotinamide 40-200 mg PO QD 2) high protein diet 3) prognosis is good

Related

solute carrier family 6 member 10 (SLC6A19, Na+ dependent neutral amino acid transporter B0, system B0 neutral amino acid transporter, B0AT1)

General

genetic disease of the kidney genetic syndrome (multisystem disorder)

Database Correlations

OMIM 234500

References

  1. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1324, 1328
  2. OMIM :accession 234500
  3. UniProt :accession Q695T7