Glycine synthase deficiency
Overview
Glycine synthase deficiency: A rare genetic disorder characterized by high blood glycine levels which is toxic to the body. The severity of the condition varies according to the degree of deficiency and age of onset. The classical neonatal form is generally quite severe, the atypical mild form which generally includes symptoms such as aggressiveness, behavioral problems and speech problems. The transient neonatal form involves high blood glycine levels at birth which then returns to normal within a couple of months - there was no neurological or developmental impairment.
Symptoms
The list of signs and symptoms mentioned in various sources for Glycine synthase deficiency includes the 25 symptoms listed below: * Coma * Severe lack of muscle tone * Myoclonic seizures * Small head * Severe mental retardation * Tetrapyramidal syndrome * High urine glycine level * Progressive apnea * Infant death * Lethargy * Weak cry * Absent reflexes * Pulmonary hypertension * Hydrocephalus * Poor infant feeding * Psychomotor retardation * Expressive speech deficit * Neurological abnormalities during intercurrent infections * Reduced infant muscle tone * Developmental delay * Aggression * Impulsivity * Abnormal movements * Infant irritability * Infant restlessness
Diagnosis
The phrase "signs of Glycine synthase deficiency" should, strictly speaking, refer only to those signs and symptoms of Glycine synthase deficiency that are not readily apparent to the patient. The word "symptoms of Glycine synthase deficiency" is the more general meaning; see symptoms of Glycine synthase deficiency. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Glycine synthase deficiency. This medical information about signs and symptoms for Glycine synthase deficiency has been gathered from various sources, may not be fully accurate, and may not be the full list of Glycine synthase deficiency signs or Glycine synthase deficiency symptoms. Furthermore, signs and symptoms of Glycine synthase deficiency may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Glycine synthase deficiency symptoms.