Chovstek’s sign
Hypocalcemic tetany of the facial nerve causing masseteric muscle spasm
Seen in hypocalcemia
Trousseau sign
Tetanic flexion of the wrist and adduction of the fingers when a blood pressure cuff is placed on the arm to occlude the brachial artery
Sign of hypocalcemia
Which substance accumulates in Tay Sachs?
GM2 Ganglioside
Which substance accumulates in Niemann-Pick Disease?
Sphingomyelin
Which diseases present with the 3 Ds?
3Ds = Dermatitis (hyperpigmentation of sun-exposed skin), diarrhea, dementia
Pellagra - Vitamin B3 (Niacin) Deficiency
Tryptophan deficiency - due to decreased absorption or increased metabolism (tryptophan is a precursor to Niacin)
Isoniazid - due to depletion of vitamin B6 necessary for synthesis of Niacin
Galactitol in the blood and/or urine
Galactokinase deficiency (mild clinical presentation - infantile cataracts)
Galactosemia (more severe clinical presentation) - failure to thrive, hepatomegaly, jaundice, intellectual disability, cataracts
Urine turns black on standing
Alkaptonuria
Defect of homogentisic oxidase; homogentisic acid builds up and is excreted in the urine