Blue diaper syndrome is a rare, autosomal recessive metabolic disorder characterized in infants by bluish urinestained diapers. It occurs when the immune system mistakenly attacks and destroys healthy body tissue. Hartnup disease genetic and rare diseases information. Causas, diagnostico, sintomas, tratamiento, embarazo. Causas trastorno hereditario ambos progenitores cromosoma. Pdf a rare case of hartnup disease is presented the patient being an 11 year old school girl suffering from a typically pellagroid rash in the. For most affected individuals, this is the only sign of the condition. Su causa estriba en una formula cromosomica aberrante. However, some people with hartnup disease have episodes during which they exhibit other.
Bacterial degradation of unabsorbed tryptophan in the intestine leads to excessive indole production and thus to indicanuria which, on oxidation. Hartnup disease is an autosomal recessive disorder caused by the defective. The abnormal urinary loss of tryptophan, a precursor of niacin, leads to a nicotinamide deficiency, pellagralike lightsensitive rash, cerebellar ataxia, emotional. Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. A 10 year old girl presented with clinical signs and symptoms of the triad of niacin deficiency namely skin eruptions, ataxia, mental changes and diarrhea.
Hartnup disease is a defective transport of trypto phan. Metabolic disorder of amino acids named after the first family in which the disorder was. Most people with hartnup disease are able to get the vitamins and other. Conceito compreende uma rara e grave variante da preeclampsia, conforme descreve weinstein, em. The disease follows an autosomal recessive mode of inheritance. As a result, affected individuals are not able to use these amino acids to produce other substances, such as vitamins and proteins. Este disturbio afeta o modo como o organismo processa os aminoacidos e os portadores desta doenca nao conseguem absorver alguns aminoacidos ao nivel do intestino e tambem nao convertem corretamente o triptofano, e como consequencia excretamnos em. The condition may be diagnosed based on the results of newborn screening tests. However, patients with hartnup disease excrete increased levels of neutral amino acids in urine. It is also known as drummonds syndrome, and hypercalcemia. Hartnup disease masked by kwashiorkor bioline international. Blue diaper syndrome, ataxia telangiectasia, hydroa vacciniforme, pityriasis alba. Hartnup disease is a condition caused by the bodys inability to absorb certain protein building blocks amino acids from the diet. Most people with the condition have no symptoms asymptomatic.