دورية أكاديمية
Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review.
| العنوان: | Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review. |
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| المؤلفون: | Cruz-Camino H; Genomi-k S.A.P.I. de C.V., Monterrey, Nuevo León, Mexico.; Tecnologico de Monterrey, Escuela de Ingeniería y Ciencias, Monterrey, Nuevo León, Mexico., Vazquez-Cantu DL; Genomi-k S.A.P.I. de C.V., Monterrey, Nuevo León, Mexico.; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo León, Mexico., Zea-Rey AV; Genomi-k S.A.P.I. de C.V., Monterrey, Nuevo León, Mexico., López-Valdez J; Centenario Hospital Miguel Hidalgo, Aguascalientes, Aguascalientes, Mexico., Jiménez-Lozano J; Centro Hospitalario MAC, Aguascalientes, Aguascalientes, Mexico., Gómez-Gutiérrez R; Genomi-k S.A.P.I. de C.V., Monterrey, Nuevo León, Mexico., Cantú-Reyna C; Genomi-k S.A.P.I. de C.V., Monterrey, Nuevo León, Mexico.; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo León, Mexico. |
| المصدر: | The Journal of international medical research [J Int Med Res] 2020 Feb; Vol. 48 (2), pp. 300060519863543. Date of Electronic Publication: 2019 Jul 25. |
| نوع المنشور: | Case Reports; Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Sage Publications Country of Publication: England NLM ID: 0346411 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-2300 (Electronic) Linking ISSN: 03000605 NLM ISO Abbreviation: J Int Med Res Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Nov. 2012- : London : Sage Publications Original Publication: Northampton, Eng., Cambridge Medical Publications ltd. |
| مواضيع طبية MeSH: | 4-Hydroxyphenylpyruvate Dioxygenase* , Mixed Function Oxygenases*/deficiency , Tyrosinemias*, DNA Mutational Analysis ; Humans ; Infant, Newborn ; Mexico ; Tyrosine |
| مستخلص: | Hawkinsinuria is an autosomal dominant disorder of tyrosine metabolism. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene ( HPD ) result in an altered HPD enzyme, causing hawkinsin and tyrosine accumulation. Persistent metabolic acidosis and failure to thrive are common features in patients with hawkinsinuria. We present the first known Latin American patient diagnosed with hawkinsinuria, and the tenth reported patient in the literature. We aim to establish clinical practice guidelines for patients with hawkinsinuria. The patient's plasma tyrosine level was 21.5 mg/dL, which is several times higher than the reference value. Mutation analysis indicated heterozygosity for V212M and A33T variants in HPD . In the case of altered tyrosine levels found during newborn screening, we propose exclusive breastmilk feeding supplemented with ascorbic acid. Amino acid quantification is useful for monitoring treatment response. If tyrosinemia persists, protein intake must be decreased via a low-tyrosine diet. Molecular studies can be used to confirm a patient's disease etiology. Further reports are required to elucidate new pathogenic and phenotypic variations to enable the development of an appropriate therapeutic approach. |
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| فهرسة مساهمة: | Keywords: 4-hydroxyphenylpyruvate dioxygenase; Mexico; Neonatal screening; case report; hawkinsinuria; tyrosinemias |
| المشرفين على المادة: | 42HK56048U (Tyrosine) EC 1.- (Mixed Function Oxygenases) EC 1.13.11.27 (4-Hydroxyphenylpyruvate Dioxygenase) |
| SCR Disease Name: | Hawkinsinuria |
| تواريخ الأحداث: | Date Created: 20190726 Date Completed: 20210514 Latest Revision: 20220531 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC7581980 |
| DOI: | 10.1177/0300060519863543 |
| PMID: | 31342835 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1473-2300 |
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| DOI: | 10.1177/0300060519863543 |