Hartnup disease is an inherited metabolic disorder in which the body has difficulty absorbing nonpolar amino acids, including tryptophan. Tryptophan can be converted into serotonin, melatonin and niacin, and niacin is a precursor to nicotinamide, a form of vitamin B3 that is a necessary component of NAD+. The condition follows an autosomal recessive pattern of inheritance. The causative gene, SLC6A19, is located on chromosome 5. The disease is named after the British family, Hartnup, who had it. It is also known as pellagra-like dermatosis and as Hartnup disorder.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. National Library of Medicine: MeSH Descriptor Data: Hartnup Disease
National Library of MedicineMeSH tree number C12.200.777.419.815.885.457
An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES .
MeSH tree number C10.228.140.163.100.355
An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES .
View the Source 2. Hartnup disease (Wikipedia)
Lead, first sentence
is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids
Lead: disease category
Hartnup disease (also known as "pellagra-like dermatosis" and "Hartnup disorder") is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin).
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