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Hereditary Tyrosinemia Type 1 in Turkey

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Hereditary Tyrosinemia

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 959))

Abstract

Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver disease with increased risk of hepatocellular carcinoma, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, failure to thrive, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism. Currently, the treatment in HT1 consists of two principles: inhibition of the formation of toxic metabolites by nitisinone [2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione; NTBC] and reduction of tyrosine levels by dietary treatment. In this chapter besides presenting the data for 42 patients that had been followed up by Pediatric Metabolic Diseases and Nutrition Unit, Cerrahpasa Medical Faculty, Istanbul University, we also evaluated the data abstracted from the previously published case studies in order to better understand the disease course and gain further insight in the current diagnosis and treatment for HT1 in Turkey.

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Abbreviations

ALAD:

δ-aminolevulinic acid dehydratase

ALT:

Alanine aminotransferase

AST:

Aspartate aminotransferase

d-ALA:

δ-aminolevulinic acid

FAA:

Fumaryl acetoacetate

FAH:

Fumarylacetoacetate hydrolase

HCC:

Hepatocellular carcinoma

HT1:

Hereditary tyrosinemia

HTIV:

Hereditary tyrosinemia type 1

LDLT:

Living donor liver transplantation

MAA:

Maleyl acetoacetate

MRI:

Magnetic resonance imaging

NBS:

Newborn screening

OLT:

Orthotopic liver transplantation

PBGS:

Porphobilinogen synthase

SA:

Succinyacetone

SAA:

Succinylacetate

TAT:

Tyrosine aminotransferase

WISC-R:

Wechsler Intelligence Scale for Children-Revised

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Authors and Affiliations

  1. Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Metabolic Diseases and Nutrition, University of Istanbul, 34098, Kocamustafapasa Fatih, Istanbul, Turkey

    Ayse Cigdem Aktuglu-Zeybek & Ertugrul Kiykim

  2. Cerrahpasa Medical Faculty, Central Laboratories, Metabolic Diseases Unit, University of Istanbul, 34098, Kocamustafapasa Fatih, Istanbul, Turkey

    M. Serif Cansever

Authors
  1. Ayse Cigdem Aktuglu-Zeybek
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  2. Ertugrul Kiykim
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  3. M. Serif Cansever
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Correspondence to Ayse Cigdem Aktuglu-Zeybek .

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Editors and Affiliations

  1. Department of Molecular Biology, Medical Biochemistry and Pathology, Medical School, Université Laval, Québec, Québec, Canada

    Robert M. Tanguay

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Aktuglu-Zeybek, A.C., Kiykim, E., Cansever, M.S. (2017). Hereditary Tyrosinemia Type 1 in Turkey. In: Tanguay, R. (eds) Hereditary Tyrosinemia. Advances in Experimental Medicine and Biology, vol 959. Springer, Cham. https://doi.org/10.1007/978-3-319-55780-9_15

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