Hartnup disease, or Hartnup's disease, or Hartnup disorder, is a genetic metabolic disorder in the absorption of the amino acidtryptophan that leads to the insufficent production of nicotinamide. The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The International Classification of Diseases for Oncology (ICD-O) is a domain specific extension of the International Statistical Classification of Diseases and Related Health Problems for tumor diseases. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... In chemistry, an amino acid is any molecule that contains both amino and carboxylic acid functional groups. ... Tryptophan is an amino acid and essential in human nutrition. ... Niacin, also known as nicotinic acid or vitamin B3, is a water-soluble vitamin whose derivatives such as NADH play essential roles in energy metabolism in the living cell. ...
Symptoms
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. Human kidneys viewed from behind with spine removed The kidneys are bean-shaped excretory organs in vertebrates. ... Diagram showing the small intestine In biology the small intestine is the part of the gastrointestinal tract between the stomach and the large intestine (colon). ...
Pellagra is also caused by low nicotinamide; this disorder results in dermatitis, diarrhea and dementia. Pellagra is a vitamin deficiency disease caused by dietary lack of niacin and protein, especially the essential amino acid tryptophan. ... Dermatitis is a term literally meaning inflammation of the skin. It is usually used to refer to eczema, which is also known as Dermatitis eczema. ... Diarrhea (American English) or diarrhoea (Commonwealth English) is a condition in which the sufferer has frequent and watery, chunky, or loose bowel movements (from the ancient Greek word διαÏÏοή = leakage; lit. ... For other senses of this word, see dementia (disambiguation). ...
This article needs to be wikified. ... Ë Cystinuria is an inherited autosomal recessive disorder and is characterized by the formation of cystine stones in the kidneys, ureter, and bladder. ...
Hartnupdisease is a rare genetic disorder of amino acid transport, presenting intermittent and variable clinical abnormalities.
Hartnupdisease is classified in the group of the Neutral Aminoacidurias, since the amino acids lost in the urine are the so called neutral amino acids : tryptophan, alanine, asparagine, glutamine, histidine,isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.
The pathologic hallmark of Hartnupdisease is the defective transport of basic amino acids (excluding the ones previously mentioned) by the jejunal mucous membranes and proximal renal tubules.
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