1
what is tyrosinemia ?
- autosomal recessive
- gene mutation from each parent
- 1:4 risk the child is affected
- organ responsible metabolism > liver
- tyrosine > aminoacid > plant & animal
2
importance of tyrosine ?
- essential AA
- PRECOURCE OF thyroxine, melanin, catecholamines
- insoluble in formulas > shaking
3
tyrosinemia type one
- reduced activity of fumaryl aceto acetate hydrolase
- FAH > final step of tyrosine degradation
- > accumilation succinylacetone > damage to liver & kidneys & neurological problems
4
acute infantile form onset
- first month of life
- death of hepatic failure between 3-9 months
5
acute infantile form manifestations
- poor weight gain
- enlarged liver & spleen
- jaundice
- distended abdomen
- swollen legs
- cabbage like odor
- funconi syndrome
- nose bleeds
- liver failure > vomiting, bleeding, sepsis, hypoglycemia
- liver cancer
6
chronic form onset
- before 6 months (late)
- death by 10 years
7
chronic form manifestations
- poor weight gain
- ascites
- growth retardation
- rickets
- hepatomegaly
- cirrhosis
- hematoma
- tubulopathy
- neuropathy
- abdominal pain
- enlargement of liver and spleen
- vomiting and diarrhea
8
neurological crisis
- metal changes
- peripheral neuropathy
- abdominal pain
- respiratory failure
- 1-7 days
9
tyrosinemia diagnosis
- ^ succinylacetone
- normal / ^ tyrosine
- ^ methionine
- ^ colics / delta-amino-levulinic acid
- ^ alfa-feto protein
10
goals of the nutritional therapy for tyrosinemia
- support growth
- normal intellectual development
- adequate nutrition
- prevent neurological crisis
- prevent liver& renal failure
- prevent the formation of tyrosine crystals (eyes)
- tyrosine levels < 500 umol/l
- normal phenylalanine levels
11
therapy for type 1 tyrosinemia
- low phe and tyrosine diet
- low protein
- niti-sinone (orfadin) - 1mg/kg
- adequate energy > normal growth and prevent protein catabolism
- fat soluble vitamins supplements
- prevent rickets > PO4 + K + vit D supplements
- high methionine levels > reduce it to normal
- if therapy fails > live transplant
12
diet during infections for tyrosinemia patients
- protein free
- high energy
- prevents > decompactions of liver > deterioration of neurological
13
tyrosinemia type 2 facts
- enzyme defect > cytosolic tyrosine amino transferase
- the rarest type
14
tyrosinemia type 2 characteristics
- corneal lesions > lacrimation, photophobia, scars
- corneal ulcers
- hyperkeratotic lesions > digits, palms, soles
- mild mental retardation
- intellectual disability
- seizures
- intermitted ataxia
15
transient tyrosinemia definition & causes
- 10% of newborns
- temporarily elevated levels of tyrosine
- not genetic
- vit C deficincy
- immature liver enzymes > pre term