Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis.
Hong Kong Med J
; 20(1): 63-6, 2014 Feb.
Article
in En
| MEDLINE
| ID: mdl-24473688
ABSTRACT
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is an autosomal recessive disorder caused by a defect in ornithine translocase. This condition leads to variable clinical presentations, including episodic hyperammonaemia, hepatic derangement, and chronic neurological manifestations. Fewer than 100 affected patients have been reported worldwide. Here we report the first two cases in Hong Kong Chinese, who were compound heterozygous siblings for c.535C>T (p.Arg179*) and c.815C>T (p.Thr272Ile) in the SLC25A15 gene. When the mother refused prenatal diagnosis for the second pregnancy, urgent genetic testing provided the definitive diagnosis within 24 hours to enable specific treatment. Optimal management of these two patients relied on the concerted efforts of a multidisciplinary team and illustrates the importance of an expanded newborn screening service for early detection and treatment of inherited metabolic diseases.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ornithine
/
Neonatal Screening
/
Hyperammonemia
/
Urea Cycle Disorders, Inborn
Type of study:
Diagnostic_studies
/
Screening_studies
Limits:
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Hong Kong Med J
Journal subject:
MEDICINA
Year:
2014
Document type:
Article
Affiliation country:
Hong Kong