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).
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,
Prophylactic antibiotics should be considered in case of
There are no known specific
implications with this condition.
Brunialti ALB, Harding CO, Wolff JA, et al: The mouse mutation
sarcosinemia (SAR) maps to chromosome 2 in a region homologous to human
Eschenbrenner M, Jorns MS: Cloning and mapping of the cDNA for human
sarcosine dehydrogenase, a flavoenzyme defective in patients with
Gerritsen T, Waisman HA: Hypersarcosinemia: An inborn error of metabolism.
N Engl J Med