Outcome of tyrosinaemia type III

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.

show abstract

“…Like our patient all have had normal liver and renal function and none has skin or eye abnormalities. [ 11 ]…”

Section: Discussionmentioning

confidence: 99%

“…In 2008, a patient with tyrosinemia type III was described with autism and mental retardation. [ 11 ] Mild hypertyrosinemia may be offered as typical clinical features of the disease. [ 8 ]…”

Section: Discussionmentioning

confidence: 99%

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

2018

View full text Add to dashboard Cite

show abstract

“…These conditions cause neurological complications; tremor, ataxia, delayed development, and intellectual impairment. 2,50 Enzyme replacement would be an ideal therapy for AKU, consisting of immediate replacement of HGD in the tyrosine degradation pathway. However, there are potentially fatal complications associated with this therapy.…”

Section: Therapiesmentioning

confidence: 99%

Alkaptonuria

2013

View full text Add to dashboard Cite

“…It is the most severe form of genetic tyrosinemia and is the only one that causes a severe liver involvement [52, 53]. …”

Section: Type I Tyrosinemiamentioning

confidence: 99%

Genetic Diseases That Predispose to Early Liver Cirrhosis

Scorza

Elce

Zarrilli

et al. 2014

International Journal of Hepatology

View full text Add to dashboard Cite

Inherited liver diseases are a group of metabolic and genetic defects that typically cause early chronic liver involvement. Most are due to a defect of an enzyme/transport protein that alters a metabolic pathway and exerts a pathogenic role mainly in the liver. The prevalence is variable, but most are rare pathologies. We review the pathophysiology of such diseases and the diagnostic contribution of laboratory tests, focusing on the role of molecular genetics. In fact, thanks to recent advances in genetics, molecular analysis permits early and specific diagnosis for most disorders and helps to reduce the invasive approach of liver biopsy.

show abstract

Outcome of tyrosinaemia type III

Cited by 60 publications

References 13 publications

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

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

Alkaptonuria

Genetic Diseases That Predispose to Early Liver Cirrhosis

Contact Info

Product

Resources

About