A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies.
* Anorexia * Vomiting * Constipation * Irritability * Failure to thrive * Fever * Recurrent infections * Reduced visual acuity * Tryptophan malabsorption * Pallor * Dwarfism * Depressed nasal bridge * Prominent epicanthal folds * Rapid involuntary eye movements * Crossed eyes * Swelling of optic disk * Optic atrophy * Bluish diaper discoloration * Sclerosis of optic foramina * Peripheral retinal atrophy * Optic atrophy * Osteosclerosis * Nephrocalcinosis in the cortex * Granuloma formation in medulla * Periglomerular fibrosis * Indicanuria * High urine calcium level * Hyperazotemia * Hypercreatinemia
It is caused by a defect in tryptophan absorption. Bacterial degradation of 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. Symptoms typically include digestive disturbances, fever and visual problems.
• low tryptophan diet • definitive treatment unknown