DiscoverHigh Yield Family Medicine#17 - Inborn Errors of Metabolism
#17 - Inborn Errors of Metabolism

#17 - Inborn Errors of Metabolism

Update: 2022-12-14
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Intro (0:35 ),

Galactosemia (1:41 ),

Hereditary fructose intolerance (3:42 ),

Essential fructosuria (4:26 ),

Glycogen storage diseases (4:48 ),

Von Gierke disease (5:18 ),

Period Acid Schiff and Diastase test (PAS-D) (6:02 ),

Pompe disease (6:38 ),

Cori disease (7:46 ),

Andersen disease (8:21 ),

McArdle disease (9:01 ),

Phenylketonuria (11:10 ),

Alkaptonuria (13:01 ),

Maple syrup urine disease (14:19 ),

Homocystinuria (16:01 ),

Urea cycle disorders (17:40 ),

Fatty acid metabolism disorders (19:14 ),

Lysosomal storage diseases (20:30 ),

Tay-Sachs disease (20:58 ),

Niemann-Pick disease (22:07 ),

Gaucher disease (22:44 ),

Metachromatic leukodystrophy (23:39 ),

Krabbe disease (24:41 ),

Hurler disease and Hunter disease (25:41 ),

Fabry disease (26:33 ),

Lesch-Nyhan syndrome (27:31 ),

Adenosine deaminase deficiency (28:20 ),

Practice questions (28:47 )

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#17 - Inborn Errors of Metabolism

#17 - Inborn Errors of Metabolism

Christopher Anghel