Metabolic - Specific Findings

Question 1

Chovstek’s sign

Answer 1

Hypocalcemic tetany of the facial nerve causing masseteric muscle spasm

Seen in hypocalcemia

Question 2

Trousseau sign

Answer 2

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

Question 3

Which substance accumulates in Tay Sachs?

Answer 3

GM2 Ganglioside

Question 4

Which substance accumulates in Niemann-Pick Disease?

Answer 4

Sphingomyelin

Question 5

Which diseases present with the 3 Ds?

Answer 5

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

Question 6

Galactitol in the blood and/or urine

Answer 6

Galactokinase deficiency (mild clinical presentation - infantile cataracts)

Galactosemia (more severe clinical presentation) - failure to thrive, hepatomegaly, jaundice, intellectual disability, cataracts

Question 7

Urine turns black on standing

Answer 7

Alkaptonuria

Defect of homogentisic oxidase; homogentisic acid builds up and is excreted in the urine