Sarcosinemia. Sarcosine dehydrogenase complex deficiency.
Incidence
It is an autosomal recessive condition. Prevalence has been estimated to be 1:28,000 to 1:350,000 in newborn screening programs.
Clinical Characteristics
Benign metabolic state producing no disease. Sarcosinemia is an autosomal recessive condition characterized by an increased concentration of sarcosine in plasma and urine, due to sarcosine dehydrogenase deficiency. Sarcosinemia is most probably a benign condition without significant clinical problems. Many clinical symptoms such as liver dysfunction, MR, growth failure, syndactyly and cardiomyopathy have been reported associated with the condition, but it probably is related to bias in the investigation of many patients in institutions of mentally retarded children. Mutations in the gene for sarcosine dehydrogenase, located on chromosome 9q34. Prevalence has been estimated to be 1:28,000 to 1:350,000 in newborn screening programs.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
EB-B. Enzyme determination in serum. Aminoacids in serum and urine show elevated sarcosine.