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Propionic Acidemia Manifesting with Low Isoleucine Generalized Exfoliative Dermatosis

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We describe an infant with propionic acidemia who developed a generalized exfoliative eruption. Preceding the eruption, he was on an amino acid restricted formula. Within days of liberalizing his restricted diet, the eruption resolved completely. A similar dermatitis has been reported in infants with inborn errors of metabolism who were on amino acid modified formulas. However, in most instances, the eruption was predominantly limited to the periorificial regions. Most critical in the etiology of cutaneous eruptions in these patients is low serum isoleucine. Amino acid malnutrition should be considered in the differential diagnosis of generalized exfoliative dermatosis in an infant. Supplementation with isoleucine-containing dietary proteins results in rapid clinical resolution.
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Document Type: Research Article

Publication date: September 1, 2007

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