Cutaneous Manifestation Maple Syrup Urine Disease: Case Report
Maple syrup urine disease or leucinosis is caused by an inborn error in the metabolism of three essential branched chain amino acids. During its complex dietary-nutritional management, skin lesions may appear secondary to amino acid deficiency. The case of a transitional male is presented, who at 10...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Universidad de las Ciencias Médicas de Cienfuegos
2024-07-01
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| Series: | Revista Finlay |
| Subjects: | |
| Online Access: | https://revfinlay.sld.cu/index.php/finlay/article/view/1436 |
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| Summary: | Maple syrup urine disease or leucinosis is caused by an inborn error in the metabolism of three essential branched chain amino acids. During its complex dietary-nutritional management, skin lesions may appear secondary to amino acid deficiency. The case of a transitional male is presented, who at 10 days after birth presented with neonatal seizures, associated with metabolic acidosis and cerebral edema, increased levels of amino acids in urine, skin lesions suggestive of dysmetabolic acrodermatitis that were colonized by staphylococcus which caused lethal staphylococcal toxic shock at 2 years of age. The patient was diagnosed with maple syrup urine disease. Due to the low incidence of this entity, the low survival rate in the neonatal form and the little described about dysmetabolic acrodermatitis in these patients, this case is presented with the aim of enriching the national and international scientific literature for future research about the topic. |
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| ISSN: | 2221-2434 |