Problem Eddie H

At the age of 12 Eddie H was referred to the paediatric outpatient clinic at the Middlesex Hospital in early June, suffering from a severe sunburn-like red scaly rash on exposed areas of his skin. His mother said that she thought he was suffering from pellagra (section 11.8.4). His older sister, now aged 20, had been treated for pellagra some 10 years previously.

At the time he had a number of neurological signs that are not characteristic of pellagra. He had an unsteady gait, jerky arm movements and intention tremor. He also showed nystagmus and complained of double vision. His mother stated that several times during childhood he had suffered similar attacks, usually associated with the common winter-time illnesses such as flu, measles and mumps. He had always made a complete recovery after such attacks, which had not been associated with the pellagra-like rash.

A diet history showed that Eddie had a normal, and apparently adequate, intake of tryptophan and niacin. Therefore, dietary deficiency seemed improbable.

Chromatography revealed excretion of a number of amino acids in his urine, with abnormally high concentrations of tryptophan, phenylalanine, tyrosine, leucine, isoleucine and valine. His urine also contained relatively high concentrations of a number of indolic compounds, including indoxyl sulphate (indican), indolyllactate, indolylacetate, indolylacetamide and indolylacetylglutamine, which are not detectable in the urine of normal subjects.

Figure 4.23 shows the effect on Eddie's plasma tryptophan of giving him an oral or intravenous dose of tryptophan of 0.5 mmol/kg body weight, or an equivalent amount of tryptophanyl-glycine by mouth. What conclusions can you draw from this information?

Response to oral tryptophan

Response to iv tryptophan

Response to Trp-Gly dipeptide

—□— control -•- Eddie H

[_________

_________

time (hours)

time (hours)

Response to iv tryptophan

time (hours)

Response to Trp-Gly dipeptide

time (hours)

time (hours)

Figure 4.23 The response of plasma tryptophan to 0.5 mmol oral or intravenous tryptophan per kilogram body weight, and to an oral dose of0.5 mmol/kg body weight tryptophanyl-glycine dipeptide. From data reported by Baron DN et al. (1956) Lancet ii: 421—428.

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