Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report.
J Pediatr Endocrinol Metab
; 34(10): 1335-1339, 2021 Oct 26.
Article
in En
| MEDLINE
| ID: mdl-34171939
ABSTRACT
OBJECTIVES:
Aldolase A deficiency also known as glycogen storage disease (GSD) XII, is an ultra rare autosomal recessively inherited GSD, associated with hemolytic anemia and rhabdomyolysis. CASE PRESENTATION Here, we first report a patient with dermatological findings, hemodialysis requirement for rhabdomyolysis, and a novel likely pathogenic c.971C>T (p.A324V) mutation in the ALDOA gene.CONCLUSIONS:
Episodes of rhabdomyolysis can be triggered by febrile illnesses and catabolic processes. Diagnosis should be confirmed by the mutation analysis of ALDOA gene. Treatment includes management of hemolytic anemia and administration of antipyretics during febrile episodes to avoid hemolysis and rhabdomyolysis.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Rhabdomyolysis
/
Glycogen Storage Disease
/
Anemia, Hemolytic
Type of study:
Diagnostic_studies
Limits:
Child, preschool
/
Humans
/
Infant
/
Male
Language:
En
Journal:
J Pediatr Endocrinol Metab
Journal subject:
ENDOCRINOLOGIA
/
PEDIATRIA
Year:
2021
Document type:
Article
Affiliation country:
Turquía