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| Disease found: | Pyruvate carboxylase deficiency |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | Inherited genetic defect in pyruvate carboxylase; impaired gluconeogenesis and Krebs/TCA cycle [more info] |
| Signs and Symptoms: | Infantile onset (Type A): developmental delay, lactic acidosis, ketoacidosis; Neonatal onset (Type B): severe lactic acidosis, hyperammonemia, hypotonia, upper motor neuron signs; Intermittent form (Type C) with episodic lactic acidosis [more info] |
| Diagnosis: | Clinical failure to thrive with lactic acidosis; confirmed by skin biopsy for pyruvate carboxylase enzyme activity assay or genetic screen. |
| Treatment: | Low-fat, high carb, high protein diet. Supportive care to help correct lactic acidosis during flares. Biotin may help improve remaining pyruvate carboxylase enzyme activity. [more info] |
| Clinical Management: | Type A is often fatal by early childhood. Type B is often fatal within months of birth. Type C: Anaplerotic therapy [explained here] to help provide alternative substrate for Krebs/TCA cycle. Ketogenic diet, fasting should be avoided. Feeding therapy commonly needed. Acute decompensation may require IV dextrose (reverse catabolism), IV sodium bicarbonate (reverse metabolic acidosis). Thiamine, lipoic acid, dichloroacetate, aspartic acid and citrate can reduce pyruvate, lactate levels. Growth/development, labs (CMP, LFTs, CBC, ketones, lactate, amino acids), neurologic exam should be routinely checked indefinitely. |
| Referral: | Geneticists who specialize in mitochondrial disease are catalogued by the United Mitochondrial Disease Foundation. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | None are available, but can sign up to be notified when one becomes available |