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Flashcards in Metabolic - Specific Findings Deck (7)
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1
Q

Chovstek’s sign

A

Hypocalcemic tetany of the facial nerve causing masseteric muscle spasm

Seen in hypocalcemia

2
Q

Trousseau sign

A

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

3
Q

Which substance accumulates in Tay Sachs?

A

GM2 Ganglioside

4
Q

Which substance accumulates in Niemann-Pick Disease?

A

Sphingomyelin

5
Q

Which diseases present with the 3 Ds?

A

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

6
Q

Galactitol in the blood and/or urine

A

Galactokinase deficiency (mild clinical presentation - infantile cataracts)

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

7
Q

Urine turns black on standing

A

Alkaptonuria

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