A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation

Document Type : CASE REPORT


1 Department of Pediatric Endocrinology and Metabolism, Ilam University of Medical Sciences, Ilam; Endocrine and Metabolism Research Center, University of Medical Sciences, Isfahan, Iran

2 Department of Pediatric Endocrinology, Endocrine and Metabolism Research Center, Isfahan, Iran

3 Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran


Tyrosinemia type III is an autosomal recessive disorder caused by the deficiency of 4- hydroxyphenylpyruvate dioxygenase (4-HPPD). It is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into the urine. Clinical findings of tyrosinemia type III include neurological symptoms and mental retardation. Only a few patients presenting with this disease have been described, and the clinical phenotype remains variable and unclear. We present a case, who was admitted to the hospital at the age of 4 months for recurrent seizures. Two months later, she was admitted again with status epilepticus. Laboratory data showed increased level of tyrosine in the blood. She was treated with a diet low in tyrosine and phenylalanine and anamix formula that leading to catch-up growth and improvement of her symptoms. Plasma tyrosine level dropped to normal values. In any child who presents with the neurologic symptom, some rare diagnosis like tyrosinemia type III should be considered.


Grant A, Rezvani I. Tyrosinemia. In: Kliegman RM, Behrman RE, Genson HB, Stanton BF, editors. Nelson Textbook of Pediatric. 19th ed. Philadelphia: Saunders; 2011.  Back to cited text no. 1
D'Eufemia P, Finocchiaro R, Celli M, Raccio I, Properzi E, Zicari A. Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. Biomed Pharmacother 2009;63:359-61.  Back to cited text no. 2
Cerone R, Holme E, Schiaffi no MC, Caruso U, Maritano L, Romano C. Tyrosinemia type III: Diagnosis and ten-year follow-up. Acta Paediatr 1997;86:1013-5.  Back to cited text no. 3
Scott CR. The genetic tyrosinemias. Am J Med Genet C Semin Med Genet 2006;142C:121-6.   Back to cited text no. 4
Heylen E, Scherer G, Vincent MF, Marie S, Fischer J, Nassogne MC. Tyrosinemia Type III detected via neonatal screening: Management and outcome. Mol Genet Metab 2012;107:605-7.  Back to cited text no. 5
Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 1992;340:813-7.  Back to cited text no. 6
Nakamura K, Tanaka Y, Mitsubuchi H, Endo F. Animal models of tyrosinemia. J Nutr 2007;137:1556S-60.  Back to cited text no. 7
Endo F, Kitano A, Uehara I, Nagata N, Matsuda I, Shinka T, et al. Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: A new variant form of hereditary hypertyrosinemia. Pediatr Res 1983;17:92-6.  Back to cited text no. 8
Awata H, Endo F, Matsuda I. Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD). Genomics 1994;23:534-9.  Back to cited text no. 9
Giardini O, Cantani A, Kennaway NG, D'Eufemia P. Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement. Pediatr Res 1983;17:25-9.  Back to cited text no. 10
Ellaway CJ, Holme E, Standing S, Preece MA, Green A, Ploechl E, et al. Outcome of tyrosinaemia type III. J Inherit Metab Dis 2001;24:824-32.   Back to cited text no. 11
Holme E. Disorders of tyrosine degradation. In: Blau N, Duran M, Blaskovics M, Gibson K, editors. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. 2nd ed. Berlin: Chapman and Hall; 1996.  Back to cited text no. 12
Tahiroglu AY, Mungan NÖ, Firat S, Avci A. Autism symptoms related to tyrosinaemia type III: A case report. Turk J Endocrinol Metab 2008;12:55-6.  Back to cited text no. 13
Hoffmann GF, Engelmann G. Liver disease. In: Hoffmann F, Zschocke J, Nyhan W, editors. Inherited Metabolic Diseases, A Clinical Approach. Heidelberg: Springer; 2010.  Back to cited text no. 14
Preece MA, Rylance GW, MacDonald A, Green A, Gray RGF. A new case of tyrosinemia type I11 detected by neonatal screening. J Inher Metab Dis 1996;19 Suppl 1:32.  Back to cited text no. 15