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SARCOSINEMIA

SARCOSINEMIA
SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY; HYPERSARCOSINEMIA
268900
OMIM = Online Mendelian Inheritance of Men
3129
Sarcosine dehydrogenase, mitochondrial
1.5.99.1
9q34.2
E72.5
rare (1:350000, ~50 cases)
autosomal recessive
mutation in the SARDH gene
Sarcosinemia is caused by a defect in the conversion of sarcosine to glycine, it is most probably a benigne disorder Sarcosinemia also with Glutaric acidemia II and Folate deficiency (goats milk feeding!)
Laboratory findingsSarcosine inc (plasma)
    Sarcosine inc (urine)
Symptomsno clinical symptoms (probably)
    Amino acids, plasma
    Amino acids, urine
    ataxia
    blindness, visual loss, visual impairment
    cardiomyopathy
    craniostenosis
    developmental delay
    dystonia
    failure to thrive
    feeding difficulties, poor feeding
    growth retardation, poor growth
    mental retardation
    onset, childhood
    onset, infancy
    onset, neonatal
    vomiting