What are the symptoms of Glutaric acidemia type I ?
What are the signs and symptoms of Glutaric acidemia type I? The specific symptoms and severity in people with glutaric acidemia type 1 (GA1) can vary widely. Some people are mildly affected, while others have severe problems. Signs and symptoms usually first occur in infancy or early childhood, but sometimes symptoms begin in adolescence or adulthood. Some infants with GA1 have a large head circumference (macrocephaly). Other features that may occur in affected people include difficulty moving; experiencing spasms, jerking, rigidity, or decreased muscle tone; and intellectual disability. Stress on the body (such as infection and fever) can cause worsening of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type I. 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) Abnormality of the fontanelles or cranial sutures 90% Encephalitis 90% Nausea and vomiting 90% Abnormal facial shape 50% Abnormal joint morphology 50% Abnormality of extrapyramidal motor function 50% Behavioral abnormality 50% Chorea 50% Feeding difficulties in infancy 50% Frontal bossing 50% Hypertonia 50% Macrocephaly 50% Muscular hypotonia 50% Abnormality of eye movement 7.5% Abnormality of the retinal vasculature 7.5% Cerebral ischemia 7.5% Cognitive impairment 7.5% Developmental regression 7.5% Gait disturbance 7.5% Hemiplegia/hemiparesis 7.5% Intracranial hemorrhage 7.5% Malignant hyperthermia 7.5% Migraine 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Seizures 7.5% Vertigo 7.5% Autosomal recessive inheritance - Choreoathetosis - Delayed myelination - Dilation of lateral ventricles - Dystonia - Failure to thrive - Glutaric acidemia - Glutaric aciduria - Hepatomegaly - Hypoglycemia - Infantile encephalopathy - Ketonuria - Ketosis - Metabolic acidosis - Opisthotonus - Rigidity - Spastic diplegia - Symmetrical progressive peripheral demyelination - 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.