The success of dietary protein restriction in alkaptonuria patients is age‐dependent

Alkaptonuria is characterized by an increased urinary excretion of homogentisic acid, pigmentation of cartilage and connective tissues, and ultimately the development of inflammatory arthropathy. Various diets low in protein have been designed to decrease homogentisic acid excretion and to prevent t...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 1998-12, Vol.21 (8), p.791-798
Main Authors: Haas, V., Carbasius Weber, E. C., Klerk, J. B. C., Bakker, H. D., Smit, G. P. A., Huijbers, W. A. R., Duran, M., Poll‐The, B. T.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aging
Alkaptonuria - complications
Alkaptonuria - diagnosis
Alkaptonuria - diet therapy
Aminoacid disorders
Behavior
Biological and medical sciences
Child
Child, Preschool
Diet, Protein-Restricted
Errors of metabolism
Female
Homogentisic Acid - urine
Humans
Male
Medical sciences
Metabolic diseases
Patient Compliance
Pigmentation Disorders - etiology
Social Behavior
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Summary:Alkaptonuria is characterized by an increased urinary excretion of homogentisic acid, pigmentation of cartilage and connective tissues, and ultimately the development of inflammatory arthropathy. Various diets low in protein have been designed to decrease homogentisic acid excretion and to prevent the ochronotic pigmentation and arthritic lesions. However, limited information is available on the long‐term beneficial effects of these diets. We reviewed the medical records of 16 patients aged 3–27 years (4>18 years) to ascertain the age of diagnosis, growth, development, social behaviour, signs of complications and longitudinal dietary compliance. The diagnosis of alkaptonuria was made at an average age of 1.4 years (2 months–4 years); following the diagnosis all patients were prescribed a diet with a protein content of 1.5 g/kg per day. All patients showed normal growth and development, and no major complications of the disease. Behavioural problems associated with poor dietary compliance emerged as the main problem. Dietary compliance decreased progressively with age. The effect of dietary protein restriction in homogentisic acid excretion was studied by fixing the amounts of protein in the diet at 1 g/kg per day and 3.5–5 g/kg per day during 8 days. Twelve patients, aged 4–27 years, participated in the investigation. Protein restriction resulted in a significantly lower excretion of homogentisic acid in the urine of children younger than 12 years (p
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005410416482