Sarcosinemia

Autosomal recessive disease characterized by sarcosine dehydrogenase deficiency. Controversies about clinical repercussion exist.

SAR; Hypersarcosinemia; Complex Deficiency of Sarcosine Dehydrogenase; SARD Deficiency; SARDH Deficiency.

1:28,000 to 1:350,000 live births (screening programs).

Autosomal recessive.

Caused by mutations in the gene for sarcosine dehydrogenase located on 9q33-q34. Mutation causes deficient activity of sarcosine dehydrogenase and then accumulation of sarcosine, which could explain clinical manifestations.

Increased concentration of sarcosine in plasma and urine as a result of sarcosine dehydrogenase deficiency.

Usually a benign metabolic state that produces no clinical disease. Multiple symptoms have been reported in sarcosinemia such as mental retardation, growth failure, hepatomegaly, craniostenosis, syndactyly, and cardiomyopathy. There is large number of patients with a high level of sarcosine in plasma who do not present any symptoms. Reported association with clinical symptoms could be as a result of an ascertainment bias.

Evaluate cardiac function (clinical, ECG, echocardiography).

Prophylactic antibiotics should be considered in case of cardiopathy.

There are no known specific implications with this condition.