INFANTILE LIVER FAILURE SYNDROME 1 (ILFS1, LARS)

Question 1

What is  INFANTILE LIVER FAILURE SYNDROME 1 (ILFS1, LARS)?

Accepted Answer

rare (6 families)
autosomal recessive
mutation in the LARS gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Akutes infantiles Leberversagen-multisystemische Beteiligung-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615438

Question 4

Which enzymes are involved?

Accepted Answer

Leucine--tRNA ligase, cytoplasmic

Disease	INFANTILE LIVER FAILURE SYNDROME 1 (ILFS1, LARS)
Synonym	INFANTILE LIVER FAILURE SYNDROME 1; ILFS1
OMIM	615438 OMIM = Online Mendelian Inheritance of Men
Orphanet	370088
Protein (UniProt)	Leucine--tRNA ligase, cytoplasmic
ExPASy	6.1.1.4
Gene locus	5q32
ICD	K72.0
Summary	rare (6 families) autosomal recessive mutation in the LARS gene
Laboratory findings	4-Hydroxyphenyllactic acid normal/inc (urine) 4-Hydroxyphenylpyruvic acid normal/inc (urine) Albumin dec (plasma) Ammonia inc (blood) L-Lactic acid inc (plasma)
Symptoms	aminoaciduria anemia Coagulopathy/Coagulation factors developmental delay failure to thrive hepatomegaly (large liver) hyperammonemia hypotonia intrauterine growth retardation lactic acidosis liver failure microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, infancy onset, neonatal renal dysfunction, renal defects seizures vomiting