SARCOSINEMIA
 
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SARCOSINEMIA

 

DEFINITION:

An inborn error of glycine metabolism characterized by elevated levels of sarcosine but resulting in no consistent clinical syndrome.

EPIDEMIOLOGY:

  • incidence: 1:350,000
  • age of onset:
    • within 3 months of birth
  • risk factors:
    • familial - ? autosomal recessive
      • chrom.#: ?
      • gene: ? sarcosine dehydrogenase
    • M = F

PATHOGENESIS:

1. Background

  • also called Hypersarcosinemia
  • sarcosine dehydrogenase catalyzes the conversion of sarcosine to glycine
  • this oxidation of sarcosine takes place primarily in the liver and kidney and does not occur in fibroblasts or leukocytes

2. Pathogenesis

  • genetic mutation of the sarcosine dehydrogenase gene -> deficient activity of sarcosine dehydrogenase -> accumulation of sarcosine -> metabolic and neurological manifestations

CLINICAL FEATURES*

1. Metabolic Manifestations

  • poor feeding with failure to thrive

2. Neurological Manifestations

  • gross motor developmental delay
  • intelligence varies from impaired to normal
  • emotional and/or psychiatric problems
* no consistent clinical syndrome has been reported

INVESTIGATIONS:

1. Diagnostic

  • elevated levels of sarcosine in the urine and blood (usually not detected in normal individuals)
  • normal organic acids

MANAGEMENT:

1. Supportive

  • genetic counselling

2. Diet

  • ? role of high dose folic acid

3. Prognosis

  • normal life span

 

 

Pediatric Database - SARCOSINEMIA

 

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