Pyruvate carboxylase deficiency: a benign variant with normal development.
Pediatr Res
; 30(1): 1-4, 1991 Jul.
Article
in En
| MEDLINE
| ID: mdl-1909777
ABSTRACT
The devastating nature of a pyruvate carboxylase deficiency is underscored by the uniformly fatal outcome of the neonatal (French) type and the severely disabling and ultimately fatal outcome of the infantile (North American) type. We report a 7-y-old girl with metabolic and biochemical features of the North American phenotype. Remarkably, the clinical course has been benign with preservations of motor and mental abilities. The residual enzyme activity in cultured skin fibroblast homogenates was 1.8% and cross-reacting material was present in normal abundance and electrophoretic mobility. She has had several episodes of metabolic acidosis with elevated lactate, pyruvate, alanine, beta-hydroxybutyrate, acetoacetate, lysine, and proline values, and undetectably low aspartate concentrations. These crises have been managed by rehydration and bicarbonate therapy. We are unable to provide a satisfactory explanation for the uniquely benign clinical course that has been experienced by this patient.
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Database:
MEDLINE
Main subject:
Pyruvate Carboxylase Deficiency Disease
Type of study:
Etiology_studies
Limits:
Child
/
Female
/
Humans
Language:
En
Year:
1991
Type:
Article