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Tyrosine hydroxylase deficiency (THD) is a recessive autosomal hereditary disease that blocks the transformation of tyrosine into levodopa, resulting in dystonia and parkinsonism in children (OMIM #605407). Treatment consists of… Click to show full abstract
Tyrosine hydroxylase deficiency (THD) is a recessive autosomal hereditary disease that blocks the transformation of tyrosine into levodopa, resulting in dystonia and parkinsonism in children (OMIM #605407). Treatment consists of L-dopa, which has variable efficacy. In Parkinson’s disease (PD) patients, a protein-redistribution diet (PRD; normal protein content, including both animal and vegetable proteins, exclusively for dinner) may reduce the competition between L-dopa and dietary amino acids. We report on the case of a patient with THD whose response to L-dopa improved significantly with a PRD and the consumption of special low-protein foods (LPP).
Journal Title: Movement Disorders
Year Published: 2017
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