| Autor: |
Jeucken YM; Afd. Kindergeneeskunde, Medisch Centrum Alkmaar., Visser G, Jaarsma AS, van Spronsen FJ |
| Jazyk: |
Dutch; Flemish |
| Zdroj: |
Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 1999 Aug 07; Vol. 143 (32), pp. 1641-3. |
| Abstrakt: |
In a 3-year-old boy alkaptonuria was diagnosed. From early age on gradual dark discoloration of his urine had been noticed in the diapers, but routine urinalysis had not revealed abnormalities. Alkaptonuria is a rare metabolic disease in which homogentisic acid cannot be metabolised, due to a lack of the enzyme homogentisic acid oxidase. The disease often manifests itself in childhood by darkening of urine on standing. The excretion of homogentisic acid in urine in these patients is increased. The disease leads to serious consequences, such as ochronosis of cartilage and connective tissues with arthritis. It is expected that treatment with ascorbic acid and a dietary restriction of protein (1 g/kg/day) can decrease the late and serious consequences by diminishing the serum concentration of the metabolite benzoquinone acetic acid. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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