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Alpers is not adrenogenital syndrome (CAH is). Alpers is progressive sclerosing poliodystrophy.
Not sure how that happened. I’m guessing lots of people noted it and said, “what’s he on?”
I’ve made the correction. Revised mnemonic is below
AUTOSOMAL RECESSIVE MNEMONIC
This autosomal recessive mnemonic is strange, but easy to remember: “PAT HAS WACK GAS which made me HURL in the BACK SEAT of an AUTOmobile!” If you are unfamiliar with PAT, s/he is unique Saturday Night Live character. Possibly male… possibly female… definitely full of WACK GAS that would make you HURL in the BACK SEAT of an AUTOmobile!
* PAT: http://upload.wikimedia.org/wikipedia/en/9/99/Itispat.jpg
* P = PHENYLKETONURIA (aka PKU)
* A = ALPHA-1-ANTITRYPSIN DEFICIENCY
* T = TAY-SACHS DISEASE
* H & HURL = HURLER’S SYNDROME
* A = ATAXIA TELANGIECTASIA
* S = SICKLE CELL DISEASE and the THALASSEMIAS
* W = WILSONS DISEASE
* A = ALPERS SYNDROME (AKA Progressive Sclerosing Poliodystrophy): This is a progressive neurologic disease. Patients do not meet their milestones and are noted to have ataxia, cognitive deficits and seizures. Also have liver disease. Die by 10 years of age.
- MNEMONIC: The symptoms of ataxia and cognitive deficits are remarkably similar to how you would feel if you got ALTITUDE sickness in the Swiss ALPS!
* C = CYSTIC FIBROSIS
* K = KARTAGENER SYNDROME: = Immotile Celia & Sperm. Lung issues and infertile. “while playing KAR-TAG, atul’s CELICA became immotile”
* G = GALACTOSEMIA
* A = see “A” disorders above
* S = see “S” disorder above
* BACK SEAT = May help you remember that this mnemonic deals with recessive disorders.
* AUTOmobile = AUTOsomal recessive.
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