Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P17174 (
aspartate aminotransferase
)
14,872
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Citrullinemia type I (
CTLN1
) is a urea cycle disorder which typically presents in the neonatal period or infancy with hyperammonemia and concurrent neurologic deterioration. We report a 15-month-old female with
CTLN1
who presented with encephalopathy and seizures with hyperammonemia requiring emergency treatment. Although there was a rapid resolution of her hyperammonemia, she developed fulminant liver failure. The severe increase of transaminases (
aspartate aminotransferase
and alanine aminotransferase levels peaking at 19,794 UI/L and 19,938 UI/L, respectively) and concurrent disturbances in her hepatic synthetic functions led to the consideration of a liver transplantation. However, there was a normalization of her liver function tests over the course of weeks with supportive therapy alone. Molecular analysis of the
ASS1
gene confirmed the diagnosis of
CTLN1
by revealing the known mutation c.1087C>T (p.R363W) on the paternal allele and an intronic nucleotide exchange leading to an insertion of 69 bp on the transcript resulting in a frameshift and premature stop of translation on the maternal allele. We also briefly report another case of
CTLN1
where liver failure was a prominent feature of the presentation. Fulminant liver failure has been described with a variety of other urea cycle disorders, but has been described in infantile onset presentation of
CTLN1
in only two other cases recently. Our observation suggests that in some cases of
CTLN1
with acute liver failure, emergency intervention such as transplantation is not warranted despite evidence of severe hepatotoxicity.
...
PMID:Transient fulminant liver failure as an initial presentation in citrullinemia type I. 2122 27
