Matching Isovaleric acidemia

ATI RN

ATI RN Test Bank

Matching: Isovaleric acidemia

A. Alopecia B. Seborrheic dermatitis C. Consumption of raw eggs D. Pancytopenia

Correct Answer: D

Rationale: Isovaleric acidemia can present with pancytopenia during crises due to bone marrow suppression.

Lysinuric protein intolerance is characterized by all of the following EXCEPT

A. severe and universal mental retardation B. pulmonary fibrosis C. hyperammonemia D. failure to thrive

Correct Answer: A

Rationale: Mental retardation is not universal in lysinuric protein intolerance; other features are typical.

Matching: X-linked

A. Peroxisomal disorder B. Disorder of peroxisomal import C. X-linked D. Primarily African-American

Correct Answer: C

Rationale: X-linked adrenoleukodystrophy is a peroxisomal disorder.

Patients with heterozygous familial hypercholesterolemia have xanthomas. The best site to look for xanthomas is

A. eyelids B. helix of ear C. flexor tendon of the elbow D. Achilles tendon

Correct Answer: D

Rationale: Achilles tendon xanthomas are classic in heterozygous FH.

Matching: Lipidosis - GM1-gangliosidosis

A. Cherry red spot B. Hepatosplenomegaly C. Both A and B D. Neither A nor B

Correct Answer: C

Rationale: GM1-gangliosidosis includes both features.

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