Blue diaper syndrome
Encyclopedia
Blue diaper syndrome is a rare, autosomal recessive metabolic disorder characterized in infants by bluish urine-stained diapers.
It is caused by a defect in tryptophan
absorption. Bacterial degradation of tryptophan in the intestine leads to excessive indole
production and thus to indican
uria which, on oxidation to indigo blue, causes a peculiar bluish discoloration of the diaper. Symptoms typically include digestive disturbances, fever and visual problems.
It was characterized in 1964.
Blue diaper syndrome is thought to be inherited as an autosomal recessive disorder.
Recent research indicates that mutation
s in the LAT2
and TAT1 gene
s might be involved in causing this syndrome
It is caused by a defect in tryptophan
Tryptophan
Tryptophan is one of the 20 standard amino acids, as well as an essential amino acid in the human diet. It is encoded in the standard genetic code as the codon UGG...
absorption. Bacterial degradation of tryptophan in the intestine leads to excessive indole
Indole
Indole is an aromatic heterocyclic organic compound. It has a bicyclic structure, consisting of a six-membered benzene ring fused to a five-membered nitrogen-containing pyrrole ring. Indole is a popular component of fragrances and the precursor to many pharmaceuticals. Compounds that contain an...
production and thus to indican
Indican
Indican is a colourless organic compound, soluble in water, naturally occurring in Indigofera plants. It is a precursor of indigo dye.-Chemical reactions:Common and significant reactions involving indican are as follows:...
uria which, on oxidation to indigo blue, causes a peculiar bluish discoloration of the diaper. Symptoms typically include digestive disturbances, fever and visual problems.
It was characterized in 1964.
Genetics
Recent research indicates that mutation
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
s in the LAT2
LAT2
Linker for activation of T-cells family member 2 is a protein that in humans is encoded by the LAT2 gene.-Further reading:...
and TAT1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
s might be involved in causing this syndrome