Ethanolaminosis. A newly recognized, generalized storage disease with cardiomegaly, cerebral dysfunction and early death.
A storage disease with cardiomegaly, generalized muscular hypotonia, cerebral dysfunction, failure to thrive and early death is described in two siblings. The first one died at the age of 10 months, the second at the age of 17 months. The symptoms were mainly due to lysosomal storage of a substance which had a positive reaction to PAS and Best's stain and which was resistant to diastase. This substance was stored in nearly all the organs, especially in the heart, liver, spleen and less in the brain and skeletal muscles. An increased renal excretion of ethanolamine, a greatly increased hepatic concentration of ethanolamine and diminished hepatic ethanolamine kinase activity could be demonstrated. Ethanolamine is essential for the synthesis of phospholipids. Both parents showed increased renal excretion of taurine. In several aspects, this syndrome is similar to the glycogenosis type II described by Pompe.
D001923:Brain Chemistry; D006332:Cardiomegaly / Q000150:complications; D004983:Ethanolamines / Q000032:analysis / Q000378:metabolism* / Q000652:urine; D005260:Female; D006801:Humans; D007223:Infant; D008099:Liver / Q000032:analysis; D008247:Lysosomes / Q000032:analysis; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D009123:Muscle Hypotonia / Q000150:complications; D009132:Muscles / Q000032:analysis; D009206:Myocardium / Q000032:analysis; D010770:Phosphotransferases / Q000172:deficiency; D017853:Phosphotransferases (Alcohol Group Acceptor); D013154:Spleen / Q000032:analysis
D004983:Ethanolamines; D010770:Phosphotransferases; D017853:Phosphotransferases (Alcohol Group Acceptor); C020125:ethanolamine kinase