Thiolase deficiency
Overview
A rare syndrome involving a deficiency of an enzyme called thiolase which results in mental retardation and muscle problems.
Symptoms
* Abnormal voice * Rib abnormality * Heart septal defect * Expressionless face * Reduced muscle tone
Diagnosis
The phrase "signs of Thiolase deficiency" should, strictly speaking, refer only to those signs and symptoms of Thiolase deficiency that are not readily apparent to the patient. The word "symptoms of Thiolase deficiency" is the more general meaning; see symptoms of Thiolase deficiency. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Thiolase deficiency. This medical information about signs and symptoms for Thiolase deficiency has been gathered from various sources, may not be fully accurate, and may not be the full list of Thiolase deficiency signs or Thiolase deficiency symptoms. Furthermore, signs and symptoms of Thiolase 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 Thiolase deficiency symptoms.