sarcosinemia

Epidemiology

• prevalence has been estimated at 1:28,000 to 1:350,000 in newborn screening program

Pathology

• sarcosine dehydrogenase deficiency
• probably a benign condition without significant clinical problems

Genetics

• autosomal recessive
• associated with defects in SARDH

Laboratory

• plasma sarcosine increased urine sarcosine increased

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/268900