Pancreatic triacylglycerol lipase deficiency

Orpha code: 309031OMIM code: 614338

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.

Disease data
Classification

Disease

Synonyms
Pancreatic triglyceride lipase deficiency
Niedobór trzustkowej lipazy trójglicerydów
ORPHA code
309031
OMIM code
614338
ICD10 code
K90.3
ICD11 code
-

No additional description.

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