Hypomorphic citrullinaemia due to mutated ASS1 with episodic ataxia.
BMJ Case Rep
; 20182018 Apr 25.
Article
in En
| MEDLINE
| ID: mdl-29695388
ABSTRACT
Children with citrullinaemia commonly present in the neonatal period with life-threatening hyperammonaemia and progressive encephalopathy. Less often, 'hypomorphic' or mild late-onset childhood or adult-onset forms may be seen with intermittent neurological symptoms or acute crisis in pregnancy. We describe an 11-year-old boy with late-onset citrullinaemia manifesting as brief episodes of ataxia triggered by minor febrile illnesses, significant citrullinaemia, mild hyperammonaemia, normal neurological examination and mild cerebellar atrophy. Targeted gene sequencing showed a homozygous, missense mutation c.815G>A (p.R272H) in exon 12 of ASS1 gene resulting in the amino acid substitution of histidine for arginine at codon 272. Our case highlights the importance of recognising urea cycle defects as a cause of intermittent neurological symptoms such as ataxia. Type-1 citrullinaemia may remain hypomorphic and needs a high index of suspicion.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ataxia
/
Mutation, Missense
/
Citrullinemia
Type of study:
Prognostic_studies
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
BMJ Case Rep
Year:
2018
Document type:
Article
Affiliation country:
India