Blue Diaper Syndrome and PCSK1 Mutations.C HPO: C , C HPO: C ] Inheritance - Autosomal recessive vs. Bacterial degradation of the tryptophan leads to excessive indole production and thus to indicanuria which, on oxidation to indigo blue, causes a peculiar bluish discoloration of the diaper. Drummond et al.
If your institution subscribes to this resource, and you don't What Is Blue Diaper Syndrome a MyAccess Profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus. Genetic disorder with defective transport for L -tryptophan resulting in blue urine. Very rare with a frequency of 1: Either autosomal recessive or X-linked recessive inheritance. Caused by a deficiency of a substrate-specific intestinal membrane transport system for L -tryptophan. The defect is located in the brush-border membrane of epithelial cells in the small intestine and kidney tubules, similar to Hartnup disease, cystinuria, iminoglycinuria, and lysine malabsorption syndrome. Blue discoloration of the diapers starting in early infancy is secondary to bacterial degradation of tryptophan, producing indigo blue Marlin Cartoon enzymatic conversion of indolic compounds in the urine.
Author information: Blue diaper syndrome BDS Online Mendelian Inheritance in Man number is an extremely rare disorder that was first described in The characteristic finding is a bluish discoloration of urine spots in the diapers of affected infants. Additional clinical features of the first described patients included diarrhea, inadequate weight gain, hypercalcemia, and nephrocalcinosis. An intestinal defect of tryptophan absorption was postulated as the underlying pathology. However, functional evidence for this theory is lacking. No genetic cause has been identified so far.
Blue diaper syndrome is a rare, autosomal recessive metabolic disorder characterized in infants by bluish urine-stained diapers. It is also known as Drummond's syndrome, and hypercalcemia. It is caused by a defect in tryptophan absorption. Bacterial degradation of unabsorbed tryptophan in the intestine leads to excessive indole production and thus to indicanuria which, on oxidation to indigo blue , causes a peculiar bluish discoloration of the diaper indoluria. Symptoms typically include digestive disturbances, fever and visual problems. Some may also develop disease due to the incomplete breakdown of tryptophan. It was characterized in , and is associated with the X linked sex gene.
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Blue diaper syndrome is a rare, genetic metabolic disorder characterized by the incomplete intestinal breakdown of tryptophan, a dietary nutrient. Symptoms typically include digestive disturbances, fever, irritability and visual difficulties. Some children with blue diaper syndrome may also develop kidney disease. Infants with this disorder may have bluish urine-stained diapers. Blue diaper syndrome is inherited as an autosomal or X-linked recessive trait. This occurs when intestinal bacteria break down excessive amounts of unabsorbed tryptophan. Symptoms of blue diaper syndrome may include irritability, constipation, poor appetite, vomiting, and the failure to grow and gain weight at the expected rate failure to thrive. Some children with Blue diaper syndrome may have frequent fevers and intestinal infections.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals.
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others. Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
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What Is Blue Diaper Syndrome
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Blue diaper syndrome is a rare metabolic disorder characterized by problems in the absorption of the aminoacid tryptophan and blue urine stains on diapers. Pediatrics. Apr;(Suppl 5):SS doi: /peds Blue Diaper Syndrome and PCSK1 Mutations. Distelmaier F(1), Herebian D(2). Blue Diaper Syndrome is a rare, genetic, metabolic disorder characterized by the body's inability to break down tryptophan (an amino acid) in.
- BLUE DIAPER SYNDROME - HYPERCALCEMIA, FAMILIAL, WITH NEPHROCALCINOSIS AND INDICANURIA. Caused by a deficiency of a substrate-specific intestinal membrane transport system for L-tryptophan. The defect is located in the brush-border membrane of. The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuria. A new familial disease, with definition of the metabolic abnormality.
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