Pseudo-Zellweger syndrome

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
* Mental retardation
* Seizures
* Facial paralysis
* High arched palate
* Reduced reflexes

Diagnosis

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.

Resources

Pseudo-Zellweger syndrome: Another name for Thiolase deficiency