#17 - Inborn Errors of Metabolism

High Yield Family Medicine - A podcast by Christopher Anghel

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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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