Abstract
A boy of 3 2/12 years of age with Richner-Hanhart syndrome (plantar and palmar keratosis and chronic keratitis) was found to have hypertyrosinemia and to excrete the hydroxyacids derived from tyrosine. A diet poor in phenylalanine and tyrosine cured the skin and corneal lesions. Clinical and biochemical observations are reported.
MeSH terms
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Amino Acid Metabolism, Inborn Errors / complications*
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Amino Acid Metabolism, Inborn Errors / diet therapy
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Amino Acids / blood
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Child, Preschool
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Humans
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Hydroxy Acids / urine
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Infant
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Intellectual Disability / blood
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Keratitis* / blood
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Keratitis* / diet therapy
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Keratoderma, Palmoplantar / diet therapy
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Keratoderma, Palmoplantar / etiology
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Male
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Syndrome
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Tyrosine / blood*
Substances
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Amino Acids
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Hydroxy Acids
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Tyrosine