Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report
| Autor: | Valentina Uroić, Ksenija Fumić, Ana Škaričić, Dunja Rogić, Ivo Barić, Tamara Žigman, Danijela Petković Ramadža, Marija Zekušić |
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| Rok vydání: | 2018 |
| Předmět: |
0303 health sciences
medicine.medical_specialty Kidney Nitisinone business.industry 030302 biochemistry & molecular biology 010401 analytical chemistry medicine.disease 01 natural sciences Article 0104 chemical sciences Bleeding diathesis Tyrosinemia 03 medical and health sciences Endocrinology medicine.anatomical_structure Renal tubular dysfunction Internal medicine medicine Fumarylacetoacetate hydrolase Tyrosine business Spectroscopy Urine organic acids medicine.drug |
| Zdroj: | Clin Mass Spectrom |
| ISSN: | 2376-9998 |
| Popis: | Tyrosinemia type 1 is an autosomal recessive aminoacidopathy caused by fumarylacetoacetate hydrolase (FAH) deficiency. Consequently, tyrosine and its metabolites accumulate, resulting in liver and kidney toxicity. Symptoms of the disease usually manifest after three weeks of life and include vomiting, failure to thrive, hepatomegaly, jaundice, bleeding diathesis, rickets and renal tubular dysfunction. Untreated, the disease eventually progresses to liver or kidney failure and generally results in a fatal outcome. Expedient diagnosis is critical because an early start of treatment can increase the likelihood of a positive outcome. Here, we report on a male newborn with a family history positive for tyrosinemia type 1 who was subjected to a metabolic work-up immediately after birth. Amino acids were quantified by tandem mass spectrometry coupled with ultra performance liquid chromatography. Urinary organic acids were analyzed on capillary gas chromatography coupled with mass spectrometry. DNA analysis of the FAH gene was performed by Sanger sequencing. On the first day of life, the patient's plasma amino acids showed an increased tyrosine concentration, while urine organic acids detected succinylacetone, a tyrosine metabolite specific for tyrosinemia type 1. The patient's DNA analysis revealed homozygosity of the c.554-1G > T mutation in the FAH gene, which was consistent with the diagnosis. Nitisinone treatment, combined with a dietary restriction of tyrosine and phenylalanine, was introduced immediately. Regular visits and measurement of amino acid concentrations, which enables therapy adjustment and treatment efficiency monitoring in patients with tyrosinemia type 1, has continued over the past 4+ years, and is expected to continue. |
| Databáze: | OpenAIRE |
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