纯合子低β脂蛋白血症和苯丙酮尿症。
Homozygous hypobetalipoproteinaemia and phenylketonuria.
作者信息
Leititis J U, Stahl M, Tackmann W, Wick H, Wildberg A
出版信息
Eur J Pediatr. 1985 Jul;144(2):174-6. doi: 10.1007/BF00451908.
Two patients, aged 0.1 and 2 years, with homozygous hypobetalipoproteinaemia, one with PKU in addition are described. The clinical evaluation showed no neurologic abnormalities. Treatment with a fat-reduced, protein and carbohydrate-enriched diet was combined with vitamin A and E supplementation, according to the suggestions for classical abetalipoproteinaemia. In the patient with PKU the protein intake was increased by using a phenylalanine-free, amino acid mixture. Only by this, were normal growth and weight gain achieved.
描述了两名分别为0.1岁和2岁的纯合子低β脂蛋白血症患者，其中一名还患有苯丙酮尿症。临床评估未发现神经学异常。根据经典无β脂蛋白血症的建议，采用低脂、富含蛋白质和碳水化合物的饮食，并补充维生素A和E进行治疗。对于患有苯丙酮尿症的患者，通过使用不含苯丙氨酸的氨基酸混合物增加蛋白质摄入量。只有这样，才能实现正常的生长和体重增加。
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