Ethanolaminosis. Ethanolamine kinase deficiency.
Incidence
Autosomal recessive. Extremely rare. Only 2 children reported in 1977.
Clinical Characteristics
Vietor et al. (1977) described an infant brother and sister with a 'new' storage disease characterized by cardiomegaly, generalized muscular hypotonia, cerebral dysfunction, and death at ages 10 and 17 months. Manifestations were attributed to lysosomal storage of a substance with a positive reaction with PAS and Best's stain and resistance to diastase. An increased renal excretion of ethanolamine, greatly increased hepatic ethanolamine, and diminished hepatic ethanolamine kinase were demonstrated. Ethanolamine is essential for the synthesis of phospholipids. Both parents showed increased renal excretion of taurine. The clinical picture resembled that of type II glycogenosis or Pompe disease.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Increased renal excretion of ethanolamine. Increased hepatic ethanolamine. Decreased hepatic ethanolamine kinase. Lysosomal storage of PAS-positive, diastase-resistant substance is seen in biopsies.