Can Celiloğlu, Fatma Derya Bulut, Semine Özdemir Dilek, Bilgin Yüksel, Deniz Kor, Neslihan Önenli Mungan, Tuğçe Kartal, Burcu Köşeci, Esra Kara

Herediter Tirozinemi Tip-1 ve Tip-1 Diabetes Mellitus Birlikteliğinde Diyet Yönetimi: Olgu Sunumu

Herediter tirozinemi tip-1 (HT1), fumarilasetoasetat hidrolaz enzim eksikliğine bağlı, nadir görülen hepatorenal bir kalıtsal metabolik hastalıktır. Herediter tirozinemi tip-1 yönetiminde, tirozin ve fenilalaninden kısıtlı diyetle birlikte nitisinon tedavisi kullanılması önerilmektedir. Otoimmün diyabet olarak da bilinen Tip-1 Diabetes Mellitus (T1DM), pankreas β-hücre disfonksiyonuna bağlı mutlak insülin eksikliği ile karakterize ve hiperglisemiye yol açan kronik endokrinolojik bir hastalıktır. Hastalarda glisemik kontrolü sağlamak için insülin ile birlikte beslenme tedavisi ve uygun fiziksel aktivite önemli yer tutmaktadır. Literatürde sınırlı sayıda olguda HT1 ve T1DM birlikteliği tanımlanmıştır. Bu sunumda tirozin metabolizma bozukluklarından HT1 nedeniyle izlenirken T1DM gelişen bir olgunun diyet yönetimi ve izlem süreci paylaşılmıştır. Yoğun insülin tedavisi ile fenilalanin ve tirozinden kısıtlı diyet tedavisi iki hastalık birlikteliğinde başarılı bir şekilde yönetilmiştir.

Dietary Management in Coexistence of Hereditary Tyrosinemia Type-1 and Type-1 Diabetes Mellitus: A Case Report

Hereditary tyrosinemia type-1 (HT1) is a rare hepatorenal inherited metabolic disease due to fumarilacetoacetate hydrolase enzyme deficiency. In the management of hereditary tyrosinemia type-1, it is recommended to use nitisinone therapy together with a tyrosine and phenylalanine restricted diet. Type-1 Diabetes Mellitus (T1DM), also known as autoimmune diabetes, is a chronic endocrinological disease characterized by absolute insulin deficiency due to pancreatic β-cell dysfunction and leading to hyperglycemia. In order to provide glycemic control in patients, nutritional therapy with insulin and appropriate physical activity have an important place. Coexistence of HT1 and T1DM has been described in a limited number of cases in the literature. In this paper, the diet management and follow-up process of a case who developed T1DM while being followed up due to HT1, one of the tyrosine metabolism disorders, was shared. Intensive insulin therapy and phenylalanine and tyrosine-restricted diet therapy have been successfully managed in the comorbidity of the two diseases.

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