Sarcosinemia


Sarcosinemia

Description, Causes and Risk Factors:

A disorder of amino acid metabolism due to deficiency of sarcosine dehydrogenase, causing the sarcosine level to rise in blood plasma and be excreted in the urine; some affected infants fail to thrive, are irritable, may have muscle tremors, and have retarded motor and mental development; autosomal recessive inheritance.

Sarcosinemia is a rare autosomal recessive metabolic disorder characterized by an accumulation of sarcosine (an intermediate in the metabolism of choline; it can donate a methyl group to tetrahydrofolate, yielding N5,N10-methylenetetrahydrofolate; demethylation by sarcosine dehydrogenase yields formaldehyde, glycine, and a reduced acceptor; elevated in certain inherited disorders) in blood plasma and urine. It can result from an inborn error of sarcosine metabolism, or from severe folate deficiency related to the folate requirement for the conversion of sarcosine to glycine. Sarcosine (N-methylglycine) is enzymatically formed from dimethylglycine by dimethylglycine dehydrogenase and converted to glycine by sarcosine dehydrogenase (SARDH). Symptoms include visual impairment, blindness, cardiomyopathy, cranial synostosis, growth and mental retardation.

Sarcosinemia is thought to be caused by a mutation in the sarcosine dehydrogenase gene. The gene has not been identified, however, it is located at human chromosome 9q34.

The disease is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 9 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

Prevalence has been estimated at 1:28'000 to 1:350'000 in newborn screening programs. Sarcosinemia is most probably a benign condition without significant clinical problems.

Symptoms:

A great variety of symptoms has been reported in sarcosinemia such as mental retardation, growth failure, hepatomegaly, craniosynostosis, syndactyly, and cardiomyopathy. On the other hand, a number of children with sarcosinemia detected by the neonatal metabolic screening program have remained completely symptom-free. Therefore it has been proposed that sarcosinemia is a benign condition and that the reported association with clinical symptoms is due to ascertainment bias,.

Diagnosis:

The diagnosis of inherited metabolic disorders of amino acid (AA) metabolism is based on the qualitative and/or the quantitative analysis of AAs, mainly in blood and urine. For years, the most widespread technique in use was ion-exchange chromatography followed by post-column derivatization with ninhydrin, a method which is the basis of numerous automated AA analyzers with a throughput of about eight samples/day. The emergence of tandem mass spectrometry (MS/MS) coupled to liquid chromatography (LC) has made possible the measurement of many metabolites for the diagnosis of inborn errors of metabolism. The LC-MS/MS method described here allows the clinical diagnosis of AA disorders by analysis of underivatized AAs and derivative molecules in various biological samples prepared by methanol precipitation. AAs are separated by ion-pairing reversed-phase LC, using perfluorocarboxylic acid as an ion-pairing agent. Each AA is detected in MS/MS-positive ionization mode by its specific transition. The method allows the analysis of about 40 biological samples/day.

Treatment:

Treatment is not needed for this disorder, as the condition is assumed to be benign. Certain corrective treatments are done to correct the disorder, often times done considering factors such as the extent of the disease. Treatments are also well considered by both the physician and patient as some treatments may threaten the life of the patient if not handled well or if a wrong treatment is administered. Medical care and follow-up therapy are also done.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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