Severe hypertriglyceridemia in an infant with red cell pyruvate kinase deficiency.
Indian Pediatr
;
2007 Apr; 44(4): 303-5
Article
in English
| IMSEAR
| ID: sea-13242
ABSTRACT
Severe hypertriglyceridemia has been observed in infants with beta-thalassemia major, an association termed hypertriglyceridemia-thalassemia syndrome. The pathophysiological basis for this association has remained unclear. We describe 6-month-old American girl with red cell pyruvate kinase (PK) deficiency, failure to thrive, and marked hypertriglyceridemia (=1500 mg/dL). The hyperlipidemia resolved with hypertransfusion therapy. At age 18 months she underwent a splenectomy and has remained transfusion-independent with normal serum triglyceride levels. We suggest that severe hemolysis and chronic wasting are probably responsible for the hypertriglyceridemia seen in infants with thalassemia or PK deficiency.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Pyruvate Kinase
/
Syndrome
/
Female
/
Humans
/
Hypertriglyceridemia
/
Risk Factors
/
Beta-Thalassemia
/
Erythrocytes
/
Infant
/
Anemia, Hemolytic, Congenital
Type of study:
Etiology study
/
Risk factors
Language:
English
Journal:
Indian Pediatr
Year:
2007
Type:
Article
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