Chapter·BiochemistryAmino acid metabolism and disorders

Homocystinuria and methionine metabolism disordersDownloads

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1

An 8-day-old boy is brought to the physician by his mother because of vomiting and poor feeding. The pregnancy was uncomplicated, and he was born at full term. He appears pale and lethargic. Physical examination shows diffusely increased muscle tone. His urine is noted to have a sweet odor. This patient's symptoms are most likely caused by the accumulation of which of the following?

APhenylalanine

BHomogentisic acid

CIsoleucine

DHomocysteine

EPhytanic acid

2

A 52-year-old female presents to her rheumatologist with complaints of fatigue, a sore mouth, and occasional nausea and abdominal pain over the past several months. Her medical history is significant for 'pre-diabetes' treated with diet and exercise, hypertension managed with lisinopril, and rheumatoid arthritis well-controlled with methotrexate. Her vital signs are within normal limits. Physical examination is significant for an overweight female with the findings as shown in Figures A and B. The physician orders laboratory work-up including complete blood count with peripheral blood smear as well as basic metabolic panel and serum methylmalonic acid and homocysteine levels. These tests are significant for a hematocrit of 29.5, a decreased reticulocyte count, normal serum methylmalonic acid level, increased homocysteine level, as well as the peripheral smear shown in Figure C. Which of the following could have reduced this patient's risk of developing their presenting condition?

AInitiation of folinic acid

BMonthly injection of vitamin B12 supplementation

CDiscontinuation of lisinopril and initiation of triamterene for blood pressure control

DAdministration of daily, high-dose PO vitamin B12

EAddition of metformin

3

A 35-year-old woman comes to the physician because of a 1-day history of swelling and pain in the left leg. Two days ago, she returned from a business trip on a long-distance flight. She has alcohol use disorder. Physical examination shows a tender, swollen, and warm left calf. Serum studies show an increased homocysteine concentration and a methylmalonic acid concentration within the reference range. Further evaluation of this patient is most likely to show which of the following serum findings?

ADecreased cobalamin concentration

BDecreased protein C concentration

CIncreased fibrinogen concentration

DDecreased folate concentration

EIncreased pyridoxine concentration

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