Short answer · Medically reviewed summary · Last updated: 2026-05-08
Pyruvate Dehydrogenase Complex Deficiency is classified under the ICD-10 code E74.4 (Disorders of pyruvate metabolism and gluconeogenesis). In the older ICD-9-CM classification system, this condition is identified by the code 271.8 (Other specified disorders of carbohydrate metabolism). What is the clinical significance of Pyruvate Dehydrogenase Complex Deficiency? Pyruvate Dehydrogenase Complex Deficiency is a rare metabolic disorder characterized by a deficit in the enzyme complex that links glycolysis to the citric acid cycle.
ICD10 code of Pyruvate Dehydrogenase Complex Deficiency and ICD9 code
ICD-10 and ICD-9 codes for Pyruvate Dehydrogenase Complex Deficiency, with classification details for clinicians, coders and patients.
Pyruvate Dehydrogenase Complex Deficiency is classified under the ICD-10 code E74.4 (Disorders of pyruvate metabolism and gluconeogenesis). In the older ICD-9-CM classification system, this condition is identified by the code 271.8 (Other specified disorders of carbohydrate metabolism).
What is the clinical significance of Pyruvate Dehydrogenase Complex Deficiency?
Pyruvate Dehydrogenase Complex Deficiency is a rare metabolic disorder characterized by a deficit in the enzyme complex that links glycolysis to the citric acid cycle. Because this complex is essential for energy production, Pyruvate Dehydrogenase Complex Deficiency often presents with lactic acidosis and severe neurological impairment. Within the DiseaseMaps community, 42 members have shared their experiences, highlighting the diverse clinical spectrum ranging from neonatal onset to milder, later-onset forms.
How is Pyruvate Dehydrogenase Complex Deficiency diagnosed?
Diagnosis of Pyruvate Dehydrogenase Complex Deficiency typically involves a combination of clinical assessment and specialized testing. Because the condition is complex, clinicians look for specific markers to confirm the diagnosis:
- Elevated levels of lactate and pyruvate in the blood and cerebrospinal fluid.
- Molecular genetic testing to identify mutations in genes such as PDHA1, which is the most common cause of Pyruvate Dehydrogenase Complex Deficiency.
- Enzyme activity assays performed on cultured skin fibroblasts or muscle tissue.
- Brain MRI scans to identify characteristic structural abnormalities like corpus callosum dysgenesis.
Is Pyruvate Dehydrogenase Complex Deficiency hereditary?
Yes, Pyruvate Dehydrogenase Complex Deficiency is a genetic disorder. Most cases are caused by mutations in the PDHA1 gene, which is located on the X chromosome, meaning it follows an X-linked dominant inheritance pattern. However, other subunits of the complex can be affected through autosomal recessive inheritance. Genetic counseling is vital for families affected by Pyruvate Dehydrogenase Complex Deficiency to understand recurrence risks.
Next steps
- Consult a metabolic specialist or a clinical geneticist to review diagnostic codes and management plans.
- Connect with the 42 members of the DiseaseMaps.org community to share experiences and coping strategies.
- Discuss the potential benefits of a ketogenic diet with your metabolic dietitian, as this is a common therapeutic approach for managing Pyruvate Dehydrogenase Complex Deficiency.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the guidance of your physician regarding any medical condition.
References
- Orphanet: Pyruvate dehydrogenase complex deficiency (ORPHA:733).
- NIH Genetic and Rare Diseases Information Center (GARD): Pyruvate dehydrogenase complex deficiency.
- OMIM (Online Mendelian Inheritance in Man): #312170 (PDHA1 deficiency).
- United Mitochondrial Disease Foundation (UMDF): Information on metabolic disorders.
