What is TYROSINEMIA I?

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].

Gibt es eine deutsche Bezeichnung?

Tyrosinämie Typ 1; Fumarylacetoacetase-Mangel

TYROSINEMIA I

Disease	TYROSINEMIA I
Synonym	FUMARYLACETOACETATE HYDROLASE DEFICIENCY; HEPATORENAL TYROSINEMIA; TYROSINOSIS, ACUTA AND CHRONIC; FUMARYLACETOACETASE;
OMIM	276700 OMIM = Online Mendelian Inheritance of Men
Orphanet	882
Protein (UniProt)	fumarylacetoacetase
ExPASy	3.7.1.2
Gene locus	15q25.1 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Fumarylacetoacetase
ICD	E70.2
Summary	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].
Laboratory findings	4-Hydroxyphenylpyruvic acid inc (urine) L-Tyrosine inc (plasma) alpha-Fetoprotein inc (plasma) N-Acetyltyrosine inc (urine) 4-Hydroxyphenylacetic acid inc (urine) Succinylacetone normal/inc (urine) 4-Hydroxycyclohexylacetic acid inc (urine) 4-Hydroxyphenyllactic acid inc (urine) 5-Aminolevulinic acid inc (urine) D-Glucose dec (blood) Ferric chloride reaction (urine) Methionine inc (plasma) Partial Thromboplastin Time (PTT) inc (blood) Phosphate dec (serum) Quick dec (blood) Thrombocytes, Platelets dec (blood) Uracil inc (urine)
Symptoms	liver failure rancid, fishy or cabbage odor gastrointestinal hemorrhage (bleeding) liver carcinoma renal enlargement renal failure, acute/chronic melena nephrocalcinosis nephromegaly neuropathy rickets Amino acids, plasma anemia ascites behavior, abnormal or bizarre, confusion 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 Hemolytic-uremic-syndrome hepatomegaly (large liver) hypoglycemia irritability jaundice lethargy, drowsiness, apathy liver involvement or dysfunction onset, childhood onset, infancy onset, neonatal Organic acids, urine renal failure, chronic thrombopenia, thrombocytopenia tubulopathy unusual odor / odour vomiting