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...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | Spanish |
| Published: |
Universidad de las Ciencias Médicas de Cienfuegos
2024-07-01
|
| Series: | Revista Finlay |
| Subjects: | |
| Online Access: | https://revfinlay.sld.cu/index.php/finlay/article/view/1436 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832577401357336576 |
|---|---|
| author | Gabriel Alejandro Díaz Bernal Mányeles Brito Vázquez Magdalena de la Caridad Guirado Espinosa |
| author_facet | Gabriel Alejandro Díaz Bernal Mányeles Brito Vázquez Magdalena de la Caridad Guirado Espinosa |
| author_sort | Gabriel Alejandro Díaz Bernal |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9384d1e6212e40b3b92a4538b64d0ba5 |
| institution | Kabale University |
| issn | 2221-2434 |
| language | Spanish |
| publishDate | 2024-07-01 |
| publisher | Universidad de las Ciencias Médicas de Cienfuegos |
| record_format | Article |
| series | Revista Finlay |
| spelling | doaj-art-9384d1e6212e40b3b92a4538b64d0ba52025-01-30T21:22:03ZspaUniversidad de las Ciencias Médicas de CienfuegosRevista Finlay2221-24342024-07-01143352361719Cutaneous Manifestation Maple Syrup Urine Disease: Case ReportGabriel Alejandro Díaz Bernal0Mányeles Brito Vázquez1Magdalena de la Caridad Guirado Espinosa2Hospital Pediátrico Universitario José Martí Pérez. Sancti Spíritus.Hospital Pediátrico Universitario José Martí Pérez. Sancti Spíritus.Hospital Pediátrico Universitario José Martí Pérez. Sancti Spíritus.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.https://revfinlay.sld.cu/index.php/finlay/article/view/1436lesiones cutáneasaminoácidos esencialesreporte de casos |
| spellingShingle | Gabriel Alejandro Díaz Bernal Mányeles Brito Vázquez Magdalena de la Caridad Guirado Espinosa Cutaneous Manifestation Maple Syrup Urine Disease: Case Report Revista Finlay lesiones cutáneas aminoácidos esenciales reporte de casos |
| title | Cutaneous Manifestation Maple Syrup Urine Disease: Case Report |
| title_full | Cutaneous Manifestation Maple Syrup Urine Disease: Case Report |
| title_fullStr | Cutaneous Manifestation Maple Syrup Urine Disease: Case Report |
| title_full_unstemmed | Cutaneous Manifestation Maple Syrup Urine Disease: Case Report |
| title_short | Cutaneous Manifestation Maple Syrup Urine Disease: Case Report |
| title_sort | cutaneous manifestation maple syrup urine disease case report |
| topic | lesiones cutáneas aminoácidos esenciales reporte de casos |
| url | https://revfinlay.sld.cu/index.php/finlay/article/view/1436 |
| work_keys_str_mv | AT gabrielalejandrodiazbernal cutaneousmanifestationmaplesyrupurinediseasecasereport AT manyelesbritovazquez cutaneousmanifestationmaplesyrupurinediseasecasereport AT magdalenadelacaridadguiradoespinosa cutaneousmanifestationmaplesyrupurinediseasecasereport |