Pyruvate dehydrogenase deficiency
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Synopsis
Clinical features of this disorder are highly variable. In the severe early infantile form, infants typically present in the first days of life with hypotonia, feeding difficulty, lethargy, lactic acidosis, and respiratory distress. Seizures are not uncommon. Patients with PDCD often have congenital anatomic abnormalities, such as agenesis of the corpus callosum and dysmorphic features (eg, frontal bossing, broad nasal bridge, upturned nose, micrognathia, low-set ears, hypospadias, short fingers and arms). Other infants may present in infancy (3-6 months) with hypotonia, feeding difficulty, and developmental delay. These infants often experience a progressive decline including dystonia, optic atrophy, ophthalmoplegia, and seizures, consistent with Leigh syndrome. A more benign thiamine-responsive, late infantile form with fluctuating ataxia has been reported.
Codes
ICD10CM:E74.4 – Disorders of pyruvate metabolism and gluconeogenesis
SNOMEDCT:
46683007 – Pyruvate dehydrogenase complex deficiency
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Other inborn errors of metabolism, particularly those presenting with lactic acidosis (other defects affecting pyruvate metabolism, mitochondrial respiratory chain, or the Krebs cycle).
- Organic acidemias and defects of mitochondrial fatty acid beta oxidation (urine organic acids can help rule these out). See, eg, isovaleric acidemia and propionic acidemia.
- Biotinidase deficiency.
- Other causes of Leigh syndrome (mutations in mitochondrial DNA).
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References
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Last Reviewed:03/20/2019
Last Updated:10/10/2022
Last Updated:10/10/2022