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Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION (MODY8)
MODY8
609812
OMIM = Online Medalian Inheritance of Men
552
9q34.13
rare
autosomal dominant
mutation in the carboxyl-ester lipase gene
symptoms
diabetes mellitus
onset, adulthood
pain, abdominal
pancreatic dysfunction, exocrine
laboratory finding
Elastase decreased activityfecal
Literature
Iqbal FReview: Human guanidinoacetate n-methyl transferase (GAMT) deficiency: A treatable inborn error of metabolismPak J Pharm Sci2862207-22112015