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Pancreatic triacylglycerol lipase deficiency

Disease definition

A rare genetic disorder of lipid metabolism characterized by neonatal to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been reported.

ORPHA:309031

Classification level: Disorder
  • Synonym(s):
    • Pancreatic triglyceride lipase deficiency
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Infancy
  • ICD-10: K90.3
  • OMIM: 614338
  • UMLS: C0268240
  • MeSH: -
  • GARD: -
  • MedDRA: -
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