A VARIANT FORM OF BRANCHED-CHAIN KETO ACIDURIA
| Autor: | S.K. Wadman, J. L. Van Der Horst |
|---|---|
| Rok vydání: | 1971 |
| Předmět: |
Male
Mental development Heterozygote medicine.medical_specialty Pediatrics Chromosome Disorders Child Behavior Disorders Methionine food Maple Syrup Urine Disease Leucine Intellectual Disability Phenylketonurias Internal medicine Humans Medicine Amino Acids Isoleucine Chromosome Aberrations chemistry.chemical_classification Maple syrup business.industry Maple syrup urine disease Clinical course Infant Valine General Medicine medicine.disease Keto Acids food.food Pedigree Amino acid Endocrinology chemistry Dietary treatment Motor Skills Child Preschool Pediatrics Perinatology and Child Health Variant form Tyrosine Female Dietary Proteins business Diet Therapy |
| Zdroj: | Acta Paediatrica. 60:594-599 |
| ISSN: | 1651-2227 0803-5253 |
| Popis: | Summary A case of branched-chain keto aciduria is described. The boy's clinical picture was similar to that of patients with the intermittent form of this disorder, but severe mental retardation was present. It proved possible to treat him successfully with a diet low in branched-chain amino acids and, at the age of 3 years, after 18 months' treatment, his mental development corresponded with his age. Details are given of the clinical course and the dietary treatment. The findings in the patient's family are also described, with the results of oral loading tests with 1-leucine performed on all members of the family. |
| Databáze: | OpenAIRE |
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