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Hartnup disease (medical condition): A rare metabolic disorder involving an error in the...more »
Hartnup disease: A disorder of amino acid transport resulting in light sensitive dermatitis, ataxia, migraines and personality changes.
Hartnup disease: disorder of amino acid transport characterized by the childhood (or rarely adult) onset of photosensitive dermatitis and intermittent neurologic symptoms; ataxia, personality changes, migraine headaches, and photophobia may occur periodically; results from impaired sodium-dependent transport of neutral amino acids across the brush border membrane of the small intestine and renal tubular epithelium.
Hartnup disease: An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.
Source: MeSH 2007
These medical condition or symptom topics may be relevant to medical information for Hartnup disease:
Hartnup disease is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Hartnup disease, or a subtype of Hartnup disease,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Hartnup disease: Hartnup disease is listed as a type of (or associated with) the following medical conditions in our database:
These medical disease topics may be related to Hartnup disease:
Source - NIH
Source - MeSH 2007
Source - MeSH 2007
Source - CRISP
The following list attempts to classify Hartnup disease into categories where each line is subset of the next.
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