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Summary
TYROSINEMIA I
FUMARYLACETOACETATE HYDROLASE DEFICIENCY HEPATORENAL TYROSINEMIA TYROSINOSIS, ACUTA AND CHRONIC FUMARYLACETOACETASE
276700
OMIM = Online Medalian Inheritance of Men
882
15q25.1

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • liver transplantation
  • NTBC (2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclo-hexanedione)
  • phenylalanine-restricted diet
  • tyrosine-restricted diet
  • vitamin D
rare (1:1000000)
autosomal recessive
mutation in the FAH gene
2 types:
- acute form (1-6 mo)
- chronic form
Hepatorenal tyrosinaemia (HT1) is a serious condition that used to be  fatal before the advent of nitisinone (NTBC, Orfadine-«) as a therapeutic option [Das AM 2017]
In the Nitisinone era only those with unresponsive liver failure or suspected malignancy were considered for transplantation [McKirnan P 2017].
symptoms
Amino acids, plasma
anemia
ascites
bleeding tendencies, hemorrhages
cardiomyopathy
cardiomyopathy, hypertrophic
cirrhosis or fibrosis of liver
Coagulopathy/Coagulation factors
diarrhea
edema
failure to thrive
Fanconi syndrome
fever
growth retardation, poor growth
hepatomegaly (large liver)
hypoglycemia
irritability
jaundice
lethargy, drowsiness, malaise or sleep disorder
liver carcinoma
liver failure
liver involvement or dysfunction
melena
nephrocalcinosis
neuropathy
onset, childhood
onset, infancy
onset, neonatal
Organic acids, urine
rancid, fishy or cabbage odor
renal enlargement (large kidneys)
renal failure, acute/chronic
rickets
thrombopenia, thrombocytopenia
tubulopathy
unusual odor / odour
vomiting
laboratory finding
Succinylacetone20.00700.000.002.00mmol/mol creatinineurine
4-Hydroxyphenyllactic acid100.005000.00 mmol/mol creatinineurineno data
4-Hydroxyphenylpyruvic acid140.002000.000.002.00mmol/mol creatinineurine
4-Hydroxyphenylacetic acid140.00500.006.0028.00mmol/mol creatinineurine
N-Acetyltyrosine30.00200.000.002.00mmol/mol creatinineurine
L-Tyrosine150.00450.0038.00147.00-Ámol/lplasmanewborn
alpha-Fetoprotein increasedplasma
D-Glucose 2.605.50decreasedblood
Methionine 9.0051.00increasedplasma
Phosphate 1.602.60decreasedserum
Thrombocytes, Platelets 150.00400.00decreasedblood
Uracil0.000.00 increasedurineno data
5-Aminolevulinic acid0.000.000.0019.00increasedurinenewborn
Ferric chloride reaction greenurine
L-Pyroglutamic acid50.0050.00 increasedurine
4-Hydroxycyclohexylacetic acid0.000.00 increasedurineno data
Betaine1200.002400.00 mmol/mol creatinineurine
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