問題詳情

32.出生 7 天大嬰兒吐奶、吸奶無力,血液檢查 pH 值為 7.21,pCO2:24 torr,HCO3-:12 mEq/L,Na+:140 mEq/L,K+:5.6 mEq/L。尿液之 ketone bodies 為陽性,病嬰身上則有一種臭腳味。此病嬰最有可能為下列何種疾病?
(A)苯酮尿症(Phenylketonuria)
(B)中鏈脂肪酸去氫酶缺乏症(Medium-chain acyl CoA dehydrogenase deficiency)
(C)戊二酸尿症第一型(Glutaric aciduria type I)
(D)異戊酸血症(Isovaleric acidemia)

參考答案

答案:D
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用户評論

Heather】評論

Sweaty feet

Ïvÿ Ćhëñ】評論

Phenyketouria : -decrease metabolism of phenylalanine-microcephaly, mental disorder, seizureMedium chain acyl CoA dehydrogenase deficiency :-inability to break down medium chain fatty acids into acetyl CoA-hypoglycemiaGlutaric aciduria type I :-unable to completely break down lysine, hydroxylysine and tryptophan-macrocephaly, mental retardationIsovaleric acidemia :-disruption of normal metabolism of the branched chain amino acid leucine-characterized by distinctive odor of sweaty feet