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on 22 March 2017

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Transcript of TYROSINEMIA


Bedour Handoom
Metabolic Dietitian
King Faisal Specialist Hospital & Research Centre
Saudi Arabia, Riyadh 11211, P.O Box 3354 MBC 110
00966 1 4647272 Ext. 75689 Pager 48928

Tyrosinemia type I, the most severe form of this disorder
Tyrosinemia type II can affect the eyes, skin, and mental development, affected will have skin lesions on the hands and feet
Tyrosinemia type III, the rarest of the three types, Only few cases of tyrosinaemia type III have been described and the full clinical spectrum of this disorder is unknown.

Three types of Tyrosinemia (I, II, and III)
What other names do people use for Tyrosinemia?

• Hereditary infantile Tyrosinemia
• Hepatorenal Tyrosinemia
• Fumarylacetoacetase deficiency
• Fumarylacetoacetate hydrolase deficiency
• FAH deficiency
• Hypertyrosinaemia
• Tyrosinosis

NTBC in combination with a low-tyrosine diet represents the only treatment available for this disease.
NTBC will increase the level of tyrosine in the child’s blood. So, a low-tyrosine diet is a very important part of treatment.
Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.
Reference.. [McKiernan 2006, Masurel-Paulet et al 2008].
Tyrosinemia Type I, GeneReviews® [Internet], Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD, July 17, 2014

What are we talking about?
Dietary Management
Nutrient Requirements
Adequacy of Therapy
Practical Advice
Family Gathering
poor weight gain
failure to thrive
hepatomegaly an enlarged liver and spleen
abdomen distention
swelling of the legs
increased tendency to bleeding
An elevation in serum alpha fetoprotein (AFP)
enlargement of the liver and spleen are prominent
the abdomen is distended with fluid
weight gain may be poor
vomiting and diarrhea
usually develop cirrhosis
require liver transplantation!
Dietary Management
Goals of dietary management for infants and children affected with Tyrosinemia are to:

• Support an appropriate rate of growth
• Support normal intellectual development
• Maintain optimal nutritional status
• Provide adequate nourishment
• Prevent neurological crisis
• Prevent liver and renal function problems
• Prevent formation of tyrosine crystals in the eyes (this occurs with elevated plasma tyrosine levels)

Controlled intakes of phenylalanine and tyrosine
Special formula that has little to no phenylalanine or tyrosine
Low protein special designed foods
Dietary Treatment of Tyrosinemia
Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, Laurie E. Bernstein, Fran Rohr, Joanna R Helm, Springer, Jun 3, 2015
• Plasma phenylalanine and tyrosine
• Plasma or urine concentrations of succinylacetone

• All plasma amino acids
• Albumin, prealbumin, hematocrit, and hemoglobin

• Liver and Kidney function studies
• The CBC should be monitored - hematologic abnormalities (leukopenia and thrombocytopenia)

Adherence to dietary instructions becomes more problematic as children with HT1 grow older, while adherence to medication was high amongst patients with HT1 and their carers who administer it.
Reference.. Sumaira Malik, Sinead NiMhurchadha, Christina Jackson, et al. Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care Team. JIMD Rep. 2015; 18: 13–22.
Parents should understand that treatment is lifelong and that compliance with dietary management is imperative to the child’s health, growth and development.
Infants and children with tyrosinemia should have regular follow-up appointments with a metabolic dietitian.
Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being.
Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented.

Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, Laurie E. Bernstein, Fran Rohr, Joanna R Helm, Springer, Jun 3, 2015
Dietary management of
Aminoacidopathies.. Disorders of Tyrosine Metabolism
1- Tyrosine aminotransferase
(deficient in tyrosinaemia type II).

2- 4-hydroxyphenylpyruvate dioxygenase
(deficient in tyrosinaemia type III).

3- Homogentisate dioxygenase
(deficient in alkaptonuria).

4- Fumarylacetoacetase
(deficient in tyrosinaemia type I).

It is caused by a defect in the hepatic tyrosine aminotransferase (TAT).

the first enzyme in the catabolism pathway of tyrosine.

Tyrosinaemia type II is inherited as an autosomal recessive trait.

Tyrosinaemia type II is characterized by causing corneal and skin lesions, in addition to variable degrees of neurological manifestations and learning difficulties. Developmental delay occurs in nearly half of the patients.

Eyesymptoms include photophobia, tearing, corneal ulceration, eye pain, and inflammation.

Skin lesions are painful hyperkeratotic plaques on the hand palms and feet soles.

Tyrosinaemia type II
Metabolic derangement Clinical manifestation :
Full transcript