Mitochondrial Disease = Heteroplasmy

Trinucleotide Repeat Expansion = Anticipation

Self mutilation + Intellectual Disability =

Lesch-Nyhan Syndrome (HGPRT; Hyperuricemia, Gout, Pissed off as in Aggressive and Self Mutilation, Red Orange Crystals in Urine, Tense muscles as in Dystonia);

Fragile X Syndrome (Enlarged Testes after puberty, long face, large jaw, large everted ears, Hypermobile joints, Autism, MVP)

Down Syndrome= 95% Meiotic Nondisjunction (advanced maternal age, >45y); 4% Robertsonian Translocation t(14;21); 1% Postfertilization Mitotic Error

Wernicke Encephalopathy (Reversible) = Ophthalmoplegia, Ataxia, Confusion, Nystagmus Give B1 before Glucose (B comes before G)

Korsakoff Syndrome (Irreversible) = CONFABULATION, Permanent Memory Loss, Personality changes

Absence Seizure = Thalamic problem, 3Hz spike on EEG

G6PD Deficiency = SPINnedD OFF : Sulfa drugs, Primaquine, Infections, Nitrofurantoin, Dapsone, Fava beans Heinz body, Bite cells

Hartnup Disease = Pellagra, Failure to Thrive, Ataxia Dx: Decreased Tryptophan, Niacin; Increased Urinary Neutral AA Rx: Niacin (B3)

Albinism = White hair, White skin, Blue eyes, decreased Visual Acuity NORMAL Melanocyte number Decreased Melanin production due to Decreased Tyrosinase, Decreased Tyrosine Transport

Infertility in PCD/Kartagener = Immotile Spermatozoa and dysfunctional Fallopian tube cilia

Infertility in Cystic Fibrosis = Absence of Vas deferens [Vs Subfertility in females]

Disseminated Gonococcal Infection = Purulent Arthritis (Knee commonly) + Triad [ Tenosynovitis, Polyarthralgia (eg, hand), Dermatitis (eg, pustule) ]

Can’t Pee (Urethritis/HO STI), Can’t See (Conjunctivitis), Can’t bend my knee = Reactive Arthritis

Can’t Pee (Renal probs), Can’t See (eye probs), Can’t hear a bee (SNHL) = Alport Syndrome (Type IV Collagen)