PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “HARTNUP DISEASE”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 199 records · Page 11Linked to original sources
PubMed1978

[Tryptophan metabolism and oligophrenia (author's transl)].

After dealing with the biochemistry of tryptophan metabolism the most important results obtained in humans are presented. Special emphasis is given to the hereditary defects of tryptophan metabolism associated with mental retardation and convulsions due to lack of pyridoxine. The author's findings demonstrate the existence of a hereditary disturbance of the tryptophan metabolism via kynurenine in a certain part of oligophrenic patients. This metabolic defect can be controlled by high doses of vitamin B6. Furthermore investigations conducted with a view to interpreting these results are discussed, especially the determination of kynureninase activity, serotonin blood levels and pyridine nucleotide synthesis.

Amino Acid Metabolism, Inborn Errors↗
PubMed1986

Photosensitivity and photodermatitis in childhood.

Photosensitivity disorders of children are uncommon, except for banal overexposure reactions to sunlight. Although the long-term sequelae of chronic or intense sun exposure are not often seen in children, physicians should advise patients of the harmful effects and irreversible skin damage that results from unduly prolonged sun exposure. Damage accumulates over the years to cause premature aging, senile elastosis, actinic keratoses, and squamous- and basal-cell carcinomas. Besides the pigmentary changes, wrinkles, and skin cancers--genuine sources of altered appearance and morbidity--we now know that sunburned children develop a higher incidence of melanoma, which is not a rare cause of death in young adults. In Australia, where the incidence of melanoma is highest, a strong correlation exists for melanoma in children who get sunburn before the age of 10. Also, the incidence of melanoma is 50 times as great in bikini wearers who get sunburn as in girls who wear one-piece bathing suits.

Adolescent↗
PubMed1987

[Dynamic study of plasma and urine amino acid patterns after an oral load of tryptophan. Application to a patient with a complex deficiency syndrome].

The aim of this work was to show that the dynamic study of the amino acid pattern in plasma and urine following an oral load of tryptophan might confirm anomalies suggested by inconsistent clinical data and below-normal biological values. Such oral loads were administered to five control subjects and one patient who had recovered from a celiac condition but was suffering from a complex deficiency syndrome associating a polyneuritis due to a lack of folic acid and the excretion of blue-colored transpiration. Thirty minutes following the load a slowing in the rate of tryptophan absorption was observed (p less than 0.05) and, during the first 6 hours, increased urinary excretion of tryptophan (p less than 0.01) and indican (p less than 0.05). Similarly, changes in the metabolism of other amino acids were either revealed or accentuated by this oral load test (ornithine, glycine, lysine, phenylalanine). It is probable that in this patient a problem of tubular re-absorption led to tryptophan being less available for metabolization along the kynurenine pathway, accounting for the increase in urinary excretion of the amino acids concerned. The diagnosis put forward is that of an unexpressed form of Hartnup's disease in association with a folic acid deficiency.

Adult↗