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Lactic acidaemia.

B H Robinson, W G Sherwood

    Journal of Inherited Metabolic Disease
    |January 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    Congenital lactic acidaemia in children is often caused by pyruvate dehydrogenase complex deficiency. Researchers identified specific defects, including E1 decarboxylase deficiency, and associated clinical features like facial dysmorphism.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatric Medicine

    Background:

    • Congenital lactic acidaemia is a group of poorly understood genetic disorders.
    • Pyruvate dehydrogenase complex deficiency is the most common cause.
    • This study investigates the genetic and clinical spectrum of these deficiencies.

    Purpose of the Study:

    • To characterize the genetic defects in childhood lactic acidaemia.
    • To correlate specific enzyme deficiencies with clinical presentations and dysmorphic features.
    • To investigate the molecular basis of pyruvate carboxylase deficiency.

    Main Methods:

    • Diagnosis of 23 cases of congenital lactic acidaemia.
    • Enzyme assays to identify pyruvate dehydrogenase complex and lipoamide dehydrogenase defects.

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  • Clinical evaluation for facial dysmorphism, microcephaly, and agenesis of the corpus callosum.
  • Biochemical analysis of pyruvate carboxylase protein status (CRM +ve/-ve).

    • Main Results:

    • 18 of 23 cases had pyruvate decarboxylase (E1) deficiency; 5 had lipoamide dehydrogenase deficiency.
    • Ten cases with E1 deficiency showed facial dysmorphism or microcephaly; two had agenesis of the corpus callosum.
    • Two forms of isolated pyruvate carboxylase deficiency were identified: one with non-catalytic protein (CRM +ve) and another with absent protein (CRM -ve).

    Conclusions:

    • Pyruvate dehydrogenase complex deficiency, particularly E1 component, is a major cause of congenital lactic acidaemia.
    • Specific enzyme defects correlate with distinct clinical phenotypes, including neurological and dysmorphic features.
    • Molecular heterogeneity exists in pyruvate carboxylase deficiency, impacting protein expression and catalytic activity.