Gaucher disease—perinatal lethal

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Gaucher disease—perinatal lethal2016-11-25T21:18:39+00:00

Gaucher disease—perinatal lethal

METABOLISM

Definition A distinct form of Gaucher disease type 2* (OMIM:608013) characterised by fetal onset of hydrops fetalis, neonatal distress, and death in utero. If born, neurologic involvement begins in the first week and leads to death within 3 months. 

*An autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase

Clinical findings Hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphism.

Molecular pathology Defects of GBA, which encodes a key enzyme in glycolipid metabolism, cause Gaucher disease perinatal lethal type. 

Synonym Gaucher disease—collodion type

References http://www.uniprot.org/uniprot/P17612

http://www.omim.org/entry/608013

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