INFANTILE LIVER FAILURE SYNDROME 2 (ILFS2, RALF)

Question 1

What is  INFANTILE LIVER FAILURE SYNDROME 2 (ILFS2, RALF)?

Accepted Answer

rare
autosomal recessive

mutation in the NBAS gene

Mutations in NBAS cause a complex disease with a wide clinical spectrum ranging from isolated RALF to a multisystemic phenotype [Staufner C et al. 2016].

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Fieber-assoziiertes akutes infantiles Leberversagen-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616483

Question 4

Which enzymes are involved?

Accepted Answer

Neuroblastoma-amplified sequence

Disease	INFANTILE LIVER FAILURE SYNDROME 2 (ILFS2, RALF)
Synonym	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2; RALF
OMIM	616483 OMIM = Online Mendelian Inheritance of Men
Orphanet	464724
Protein (UniProt)	Neuroblastoma-amplified sequence
Gene locus	2p24.3
ICD
Summary	rare autosomal recessive mutation in the NBAS gene Mutations in NBAS cause a complex disease with a wide clinical spectrum ranging from isolated RALF to a multisystemic phenotype [Staufner C et al. 2016].
Laboratory findings	Ammonia normal/inc (blood) D-Glucose dec (plasma) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	Coagulopathy/Coagulation factors dysmorphism edema hepatomegaly (large liver) hyperammonemia hypoglycemia infections (respiratory tract/system) infections (severe or recurrent) jaundice lethargy, drowsiness, apathy liver failure liver failure onset, childhood onset, infancy splenomegaly (large spleen) vomiting