#17 - Inborn Errors of Metabolism


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Dec 14 2022 35 mins   2

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Intro 0:30,

Galactosemia 1:36,

Hereditary fructose intolerance 3:37,

Essential fructosuria 4:21,

Glycogen storage diseases 4:43,

Period Acid Schiff and Diastase test (PAS-D) 5:57,

Von Gierke disease 5:13,

Pompe disease 6:33,

Cori disease 7:41,

Andersen disease 8:16,

McArdle disease 8:56,

Phenylketonuria 11:05,

Alkaptonuria 12:56,

Maple syrup urine disease 14:14,

Homocystinuria 15:56,

Urea cycle disorders 17:35,

Fatty acid metabolism disorders 19:09,

Lysosomal storage diseases 20:25,

Tay-Sachs disease 20:53,

Niemann-Pick disease 22:02,

Gaucher disease 22:39,

Metachromatic leukodystrophy 23:34,

Krabbe disease 24:36,

Hurler disease and Hunter disease 25:36

Fabry disease 26:28,

Lesch-Nyhan syndrome 27:26,

Adenosine deaminase deficiency 28:15,

Practice questions 28:42