Tyrosinemia type III: diagnosis and ten‐year follow‐up

Cerone, R.; Holme, Elisabeth; Schiaffino, M. C.; Caruso, U.; Maritano, L.; Romano, C.

doi:10.1111/j.1651-2227.1997.tb15192.x

Cited by 40 publications

(33 citation statements)

References 11 publications

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“…However, with the rare tyrosinaemia type III, due to 4-hydroxyphenylpyruvate dioxygenase deficiency, cognitive impairment is reported in 75% of the cases. The cause of neurological impairment is not established, but a role for hypertyrosinaemia has been suggested based on the better outcome in cases detected by neonatal screening and treated early (Ellaway et al 2001), and on neurological improvement with Phe-and Tyr-restricted diet in some cases (Cerone et al 1997). In addition, tyrosine is a brain neurotransmitter.…”

Section: Discussionmentioning

confidence: 98%

NTBC treatment in tyrosinaemia type I: Long‐term outcome in French patients

Masurel‐Paulet

Poggi-Bach

Rolland

et al. 2008

J of Inher Metab Disea

193

164

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We describe a retrospective study of long-term outcome of 46 patients treated and regularly followed in France with 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC) for tyrosinaemia type I. Most had initial good response with normalization of liver function and metabolic parameters. Only one infant had no response to treatment and required liver transplantation. Among the 45 long-term treated patients, three underwent secondary liver transplantation: one for cirrhosis and two because of hepatocellular carcinoma. One of the latter died of transplantation complications, so that the overall survival rate was 97.5%. However, 17 of 45 showed persistent abnormal liver imaging (heterogeneous liver) and 6 had cirrhosis. Furthermore, 15 had persistently elevated levels of alpha-fetoprotein, highlighting the question of the persistent risk of carcinoma. Quality of life was usually good but compliance problems were frequent, mainly regarding the low phenylalanine-tyrosine diet. Few adverse effects were observed. A main concern was the high frequency of cognitive impairment causing schooling problems, which may be related to persistent chronic hypertyrosinaemia. In conclusion, this series confirms that NTBC treatment has clearly improved the vital prognosis and quality of life of tyrosinaemia type I patients but that many late complications persist. Long-term studies are necessary to determine whether this drug may prevent or only delay liver complications, andto survey the possible risks of the drug. A more restricted diet could be necessary to prevent the neurological impact of the disease.

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Section: Discussionmentioning

confidence: 98%

NTBC treatment in tyrosinaemia type I: Long‐term outcome in French patients

Masurel‐Paulet

Poggi-Bach

Rolland

et al. 2008

J of Inher Metab Disea

193

164

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“…13 Hereditary Tyrosinemia Type III (HTT-III) is an even rarer disorder caused by deficiency of 4-hydroxyphenylpyruvate dioxygenase (4HPPD). 15,16 Only a few patients have been described with this disorder. 15,16 The causal relationship of high levels of tyrosine with the diseased state has been established only in deficiency of tyrosine aminotransferase.…”

Section: Introductionmentioning

confidence: 98%

“…15,16 Only a few patients have been described with this disorder. 15,16 The causal relationship of high levels of tyrosine with the diseased state has been established only in deficiency of tyrosine aminotransferase. 1 The significance of hypertyrosinemia in the pathogenesis of the other two enzyme deficiencies is unclear.…”

Section: Introductionmentioning

confidence: 98%

Current management options for tyrosinemia

El‐Shabrawi¹,

Kamal²

2013

ODRR

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Hypertyrosinemia is observed in three inherited disorders of tyrosine metabolism. Hereditary Tyrosinemia Type I (HTT-I), or hepatorenal tyrosinemia, is an autosomal recessive disorder caused by mutation in the fumarylacetoacetate hydrolase (FAH) gene. HTT-I is associated with severe involvement of the liver, kidneys, and central nervous system, and is due to toxic accumulation of metabolites of tyrosine, such as succinylacetone. HTT-I is the inborn error with the highest incidence of progression to hepatocellular carcinoma. Elevated succinylacetone, in dried filter paper blood samples, or in plasma or urine, is pathognomonic and diagnostic for HTT-I and is the most reliable neonatal screening method. Liver transplantation is the definitive management, but the need for this is markedly decreased by the combined dietary and drug management. A diet low in tyrosine and phenylalanine, plus nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione) (NCTB) are considered the gold standard management options. Carnitine and 1,25-OH-vitamin D are adjuvant therapy. Strict follow up with succinylacetone level for monitoring of treatment should be done. Abdominal ultrasonography and abdominal computerized tomography scan or magnetic resonance imaging should also be done for surveillance of the possible development of hepatocellular carcinoma.

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“…Tyrosinemia type II is a disease caused by tyrosine aminotransferase deficiency with a clinical presentation includes mental retardation, herpetiform corneal ulcers, and skin hyperkeratotic lesions of the digits, palms, and soles [1,2]. Tyrosinemia type III is an extremely rare disorder caused by deficiency of 4-hydroxyphenylpyruvate dioxygenase, with clinical presentation of intermittent ataxia, without hepatorenal involvement or corneal ulcers or skin lesions [3].…”

Section: Introductionmentioning

confidence: 99%

A Review of Metabolic Disorder of Amino Acid Tyrosinemia type I: When to Suspect and how to Diagnose

Alobaidy¹

2017

IOSRJPBS

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Tyrosinemia type III: diagnosis and ten‐year follow‐up

Cited by 40 publications

References 11 publications

NTBC treatment in tyrosinaemia type I: Long‐term outcome in French patients

NTBC treatment in tyrosinaemia type I: Long‐term outcome in French patients

Current management options for tyrosinemia

A Review of Metabolic Disorder of Amino Acid Tyrosinemia type I: When to Suspect and how to Diagnose

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