Hartnup disease

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Hartnup disease Classification and external resources
Tryptophan
ICD-10	E72.0
ICD-9	270.0
OMIM	234500
DiseasesDB	5638
eMedicine	derm/713
MeSH	D006250

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Hartnup disease, or Hartnup's disease, or Hartnup disorder, is an autosomal recessive genetic metabolic disorder in the absorption of the amino acid tryptophan that can be, in turn, converted into Serotonin, Melatonin and Niacin. Niacin is a precursor to nicotinamide, a necessary component of NAD+.

The causative gene is located on chromosome 5.

Symptoms

Hartnup disease manifest during infancy with variable clinical presentation: failure to thrive, photosensitivity, intermittent ataxia, nystagmus and tremor. Nicotinamide is necessary for neutral amino acid transporter production in the proximal renal tubules found in the kidney, and intestinal mucosal cells found in the small intestine. Therefore, a symptom stemming from this disorder results in increased amounts of amino acids in the urine.

Pellagra is also caused by low nicotinamide; this disorder results in dermatitis, diarrhea and dementia.

See also

• Cystinosis
• Cystinuria

External links

• University of Maryland

v • d • e WikiDoc Research Resources for Hartnup disease
Articles on Hartnup disease	Most recent articles on Hartnup disease • Most cited articles on Hartnup disease • Review articles on Hartnup disease • Articles on Hartnup disease in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Hartnup disease	Powerpoint slides on Hartnup disease • Images of Hartnup disease • Photos of Hartnup disease • Podcasts & MP3s on Hartnup disease • Videos on Hartnup disease
Evidence Based Medicine Regarding Hartnup disease	Cochrane Collaboration on Hartnup disease • Bandolier on Hartnup disease • TRIP on Hartnup disease
Cost Effectiveness of Hartnup disease	Cost Effectiveness of Hartnup disease
Clinical Trials Involving Hartnup disease	Ongoing Trials on Hartnup disease at Clinical Trials.gov • Trial results on Hartnup disease • Clinical Trials on Hartnup disease at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Hartnup disease	US National Guidelines Clearinghouse on Hartnup disease • NICE Guidance on Hartnup disease • NHS PRODIGY Guidance • FDA on Hartnup disease • CDC on Hartnup disease
Textbook Information on Hartnup disease	Books and Textbook Information on Hartnup disease
Pharmacology Resources on Hartnup disease	Dosing of Hartnup disease • Drug interactions with Hartnup disease • Side effects of Hartnup disease • Allergic reactions to Hartnup disease • Overdose information on Hartnup disease • Carcinogenicity information on Hartnup disease • Hartnup disease in pregnancy • Pharmacokinetics of Hartnup disease •
Genetics, Pharmacogenomics, and Proteinomics of Hartnup disease	Genetics of Hartnup disease • Pharmacogenomics of Hartnup disease • Proteomics of Hartnup disease
Newstories on Hartnup disease	Hartnup disease in the news • Be alerted to news on Hartnup disease • News trends on Hartnup disease
Commentary on Hartnup disease	Blogs on Hartnup disease
Patient Resources on Hartnup disease	Patient resources on Hartnup disease • Discussion groups on Hartnup disease • Patient Handouts on Hartnup disease • Directions to Hospitals Treating Hartnup disease • Risk calculators and risk factors for Hartnup disease
Healthcare Provider Resources on Hartnup disease	Symptoms of Hartnup disease • Causes & Risk Factors for Hartnup disease • Diagnostic studies for Hartnup disease • Treatment of Hartnup disease
Continuing Medical Education (CME) Programs on Hartnup disease	CME Programs on Hartnup disease
International Resources on Hartnup disease	Hartnup disease en Espanol • Hartnup disease en Francais
Business Resources on Hartnup disease	Hartnup disease in the Marketplace • Patents on Hartnup disease
Informatics Resources on Hartnup disease	List of terms related to Hartnup disease

v • d • e Metabolic pathology / Inborn error of metabolism (E70-90, 270-279)
Amino acid	Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
Carbohydrate	Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storage	Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipid	Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
Mineral	Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte and acid-base balance	Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
Purine and pyrimidine	Hyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
Porphyrin	Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
Bilirubin	Unconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
Glycosaminoglycan	Mucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
Glycoprotein	Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
Other	Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia

de:Hartnup-Krankheit