LIVER FAILURE, INFANTILE, TRANSIENT (LFIT)

Question 1

What is  LIVER FAILURE, INFANTILE, TRANSIENT (LFIT)?

Accepted Answer

rare
autosomal recessive
mutation in the TRMU gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Leberversagen transient, neonatal [DD]

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613070

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial tRNA-specific 2-thiouridylase 1

Disease	LIVER FAILURE, INFANTILE, TRANSIENT (LFIT)
Synonym	ACUTE INFANTILE LIVER FAILURE
OMIM	613070 OMIM = Online Mendelian Inheritance of Men
Orphanet	217371
Protein (UniProt)	Mitochondrial tRNA-specific 2-thiouridylase 1
Gene locus	22q13.31
ICD	K72.0
Summary	rare autosomal recessive mutation in the TRMU gene
Laboratory findings	Hippuric acid normal/inc (urine) alpha-Fetoprotein inc (serum) Ammonia normal/inc (blood) L-Lactic acid inc (plasma) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	cholestasis Coagulopathy/Coagulation factors feeding difficulties, poor feeding hepatomegaly (large liver) hyperammonemia hypotonia jaundice lactic acidosis liver failure onset, infancy onset, neonatal pancreatic insufficiency prominent abdomen splenomegaly (large spleen) vomiting