Plasmalogens synthesis deficiency isolated

Overview

Plasmalogens synthesis deficiency isolated: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (peroxisomal dihydroxyacetonephosphate acyl transferase)

Symptoms

Low nose bridge Broad nose bridge Anteverted nostrils Cataracts Short arms

Diagnosis

Home medical testing related to Plasmalogens synthesis deficiency isolated: Fatigue: Related Home Tests: Home Anemia Tests Home Thyroid Function Tests Home Adrenal Function Tests Home Calcium Deficiency Tests Home HIV Tests