Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
Overview
A rare metabolic disorder caused by an enzyme deficiency (GTP cyclohydrolase) which causes a harmful build up of phenylalanine in the blood.
Symptoms
* Increased blood phenylalanine levels * GTP cyclohydrolase deficiency * Increased urine phenylketone level * Neurological signs * Psychomotor retardation * Abnormal muscle tone * Convulsions * Drowsiness * Irritability * Abnormal movements * Swallowing difficulty * Hyperthermia * Increased salivation
Causes
Conditions listing GTP cyclohydrolase deficiency as a symptom may also be potential underlying causes of GTP cyclohydrolase deficiency. Our database lists the following as having GTP cyclohydrolase deficiency as a symptom of that condition: * GTP cyclohydrolase deficiency