Disease or Syndrome
Hartnup disease
Subclass of:
Amino Acid Transport Disorders, Inborn;
Brain Diseases, Metabolic, Inborn;
Renal Aminoacidurias
Also called:
Hartnup's Disease
Definitions related to hartnup disease:
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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.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia.NCI ThesaurusU.S. National Cancer Institute, 2021
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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.CRISP ThesaurusNational Institutes of Health, 2006
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Hartnup disease is a rare autosomal recessive disease involving malabsorption and increased renal excretion of tryptophan and other amino acids. Also, conversion of tryptophan to niacinamide is impaired. Symptoms are rash, central nervous system abnormalities, short stature, headache, and collapsing or fainting. Diagnosis is by high...Merck & Co., Inc., 2020
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Hartnup disease is an autosomal recessive disorder caused by impaired neutral (ie, monoaminomonocarboxylic) amino acid transport in the apical brush border membrane of the small intestine and the proximal tubule of the kidney. Patients present with pellagralike skin eruptions, cerebellar ataxia, and gross aminoaciduria.WebMD, 2019
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Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. It is a type of aminoaciduria. The condition may be diagnosed based on the results of newborn screening tests. Most people with the condition have no symptoms (asymptomatic). For those who do show...National Center for Advancing Translational Sciences
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Hartnup disease, inborn metabolic disorder involving the amino acid tryptophan. Normally, one of the metabolic pathways of tryptophan leads to the synthesis of nicotinic acid, or niacin, a vitamin of the B group, a deficiency of which causes pellagra. In Hartnup disease, it is believed that the...Encyclopedia Britannica, Inc., 2020
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