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case_report·pediatrics, gastroenterology, nephrology, clinical nutrition, preclinical research·PMC10820469

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood

Medicina · 5 authors, 3 centres

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The article presents a case of a two-year-old Lithuanian child diagnosed with subacute hereditary tyrosinemia type 1 (HT1) following the accidental detection of anemia, neutropenia, and thrombocytopenia at 18 months, leading to later diagnosis of liver damage and failure. The patient was treated with nitisinone (1 mg/kg/day) and a low-phenylalanine/tyrosine diet, with clinical improvement observed within one day, suspending plans for liver transplantation. The discussion, based on a literature review, emphasizes that HT1 is characterized by toxic metabolite accumulation, with pathognomonic elevated succinylacetone. It highlights that early diagnosis via newborn screening and timely nitisinone treatment significantly improve outcomes, reducing liver disease and hepatocellular carcinoma risk to less than 1%.

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case_report

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pediatrics

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ORIGINAL PAPER

PMC10820469

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood

Medicina

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ABSTRACT

Hereditary type 1 tyrosinemia (HT1) is a rare inherited autosomal recessive disorder of tyrosine metabolism, characterized by progressive liver damage, dysfunction of kidney tubules, and neurological crises. In the course of this disease, due to the deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), toxic intermediate metabolites of tyrosine breakdown, such as fumarylacetoacetate (FAA), succinylacetoacetate (SAA), and succinylacetone (SA), accumulate in liver and kidney cells, causing cellular damage. Because of this, an increased SA concentration in the blood or urine is pathognomonic of HT1. In the year 2000, HT1 was diagnosed in Lithuania for the first time, and this was the first time when a specific treatment for HT1 was administered in the country. Over two decades, four cases of this disease have been diagnosed in Lithuania. In the first of these patients, the disease was diagnosed in infancy, manifesting as liver damage with liver failure. Treatment with nitisinone was initiated, which continues to be administered, maintaining normal liver function. Liver transplantation was performed on two subsequent patients due to complications of HT1. It is crucial to diagnose HT1 as early as possible in order to reduce or completely eliminate complications related to the disease, including progressive liver failure and kidney dysfunction, among others. This can only be achieved by conducting a universal newborn screening for tyrosinemia and by starting treatment with nitisinone (NTBC) before the age of 1 month in all cases of HT1. However, in those countries where this screening is not being carried out, physicians must be aware of and consider this highly rare disorder. They should be vigilant, paying attention to even minimal changes in a few specific laboratory test results—such as unexplained anemia alongside neutropenia and thrombocytopenia—and should conduct more detailed examinations to determine the causes of these changes. In this article, we present the latest clinical case of HT1 in Lithuania, diagnosed at the Children’s Diseases’ Clinic of the Lithuanian University of Health Sciences (LUHS) Hospital Kaunas Clinics. The case manifested as life-threatening acute liver failure in early childhood. This article explores and discusses the peculiarities of diagnosing this condition in the absence of universal newborn screening for tyrosinemia in the country, as well as the course, treatment, and ongoing monitoring of patients with this disorder.

CITATION EXPORT

Rūta Rokaitė, Agnė Čibirkaitė, Vykinta Zeleckytė et al.. A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood. Medicina. (2024). https://doi.org/10.3390/medicina60010135

AUTHORS

5 · 3 CENTRES

Rūta Rokaitė, Agnė Čibirkaitė, Vykinta Zeleckytė, Gabija Lazdinytė, Mindaugas Dženkaitis

1Department of Pediatrics, Medical Academy, Lithuanian University of Health Sciences, LT 44307 Kaunas, Lithuania
2Faculty of Medicine, Medical Academy, Lithuanian University of Health Sciences, LT 44307 Kaunas, Lithuania
3School of Medicine, College of Health and Agricultural Sciences, University College Dublin, Belfield, D04 V1W8 Dublin, Ireland

EDITOR / REVIEWER

Felix Bende, Alina Popescu, Matteo Rosselli