Blue diaper syndrome
Blue Diaper Syndrome
Blue Diaper Syndrome (pronounced: bloo dai-per sin-drohm) is a rare metabolic disorder that is characterized by the abnormal presence of a blue or greenish color in the urine or feces. The condition is also known as Drummond's Syndrome or Tryptophan Malabsorption Syndrome.
Etymology
The term "Blue Diaper Syndrome" is derived from the distinctive blue or greenish color that appears in the urine or feces of affected individuals, often noticeable in their diapers. The syndrome was first described by Drummond and Matthew in 1964, hence the alternative name, Drummond's Syndrome.
Symptoms
The primary symptom of Blue Diaper Syndrome is the abnormal coloration of urine and feces. Other symptoms may include intellectual disability, hypercalcemia (excessive calcium in the blood), and nephrocalcinosis (calcium deposits in the kidneys).
Causes
Blue Diaper Syndrome is caused by a defect in the body's ability to absorb the essential amino acid tryptophan. This results in an excessive amount of tryptophan being excreted in the urine, which reacts with air to produce the characteristic blue or greenish color.
Diagnosis
Diagnosis of Blue Diaper Syndrome is typically made through a combination of clinical examination and laboratory testing, including urine tests to detect the presence of excessive tryptophan.
Treatment
Treatment for Blue Diaper Syndrome primarily involves dietary management to ensure adequate intake of tryptophan. In some cases, medication may be prescribed to manage associated symptoms such as hypercalcemia and nephrocalcinosis.
See Also
External links
- Medical encyclopedia article on Blue diaper syndrome
- Wikipedia's article - Blue diaper syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski