Question: What is (are) Pyruvate carboxylase deficiency ?
Answer: Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, types A, B, and C, which are distinguished by the severity of their signs and symptoms. This condition is caused by mutations in the PC gene and inherited in an autosomal recessive pattern.
Source: GARD

Question: What are the symptoms of Pyruvate carboxylase deficiency ?
Answer: What are the signs and symptoms of Pyruvate carboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate carboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Clonus - Congenital onset - Hepatomegaly - Hyperalaninemia - Hypoglycemia - Increased serum lactate - Increased serum pyruvate - Intellectual disability - Lactic acidosis - Muscular hypotonia - Neuronal loss in the cerebral cortex - Periventricular leukomalacia - Proximal renal tubular acidosis - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD