Question: What are the symptoms of Pyruvate decarboxylase deficiency ?
Answer: What are the signs and symptoms of Pyruvate decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate decarboxylase 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) Abnormal facial shape 35% Abnormality of eye movement - Agenesis of corpus callosum - Anteverted nares - Apneic episodes precipitated by illness, fatigue, stress - Basal ganglia cysts - Cerebral atrophy - Choreoathetosis - Chronic lactic acidosis - Decreased activity of the pyruvate dehydrogenase (PDH) complex - Dystonia - Episodic ataxia - Flared nostrils - Frontal bossing - Hyperalaninemia - Increased CSF lactate - Increased serum lactate - Infantile onset - Intellectual disability - Lethargy - Long philtrum - Microcephaly - Muscular hypotonia - Phenotypic variability - Ptosis - Seizures - Severe lactic acidosis - Small for gestational age - Ventriculomegaly - Wide nasal bridge - X-linked dominant inheritance - 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