" /> Lathosterolosis - CISMeF





Preferred Label : Lathosterolosis;

Symbol : LATHOS;

CISMeF acronym : LATHOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sterol c5-desaturase deficiency; Sc5d deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sterol 3-beta-hydroxysteroid-delta-5-desaturase gene (SC5DL, 602286.0001);

Laboratory abnormalities : Elevated transaminases; Hyperbilirubinemia; Elevated lathosterol; Absent 7-dehydrocholesterol; Decreased 3-beta-hydroxysteroid-delta-5-desaturase (SC5D); Elevated gamma-glutamyltransferase; Elevated alkaline phosphatase; Elevated ammonia; Normal cholesterol; Fibroblasts show lamellar lysosomal inclusions on electron microscopy;

Prefixed ID : #607330;

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03/05/2025


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