Kohlschütter A, Willig H P, Schlamp D, Kruse K, McCabe E R, Schäfer H J, Beckenkamp G, Rohkamm R
Universitätskinderklinik, Hamburg, Federal Republic of Germany.
Eur J Pediatr. 1987 Nov;146(6):575-81. doi: 10.1007/BF02467357.
Infantile glycerol kinase deficiency (GKD) is an X-linked genetic disease characterized clinically by adrenal insufficiency and muscular dystrophy. The enzyme defect leads to increased levels of glycerol in blood and urine, which can be used for diagnosis. Without recognition of this condition, the chances for life-saving steroid treatment and for genetic counselling are missed. We report clinical, endocrinological, biochemical, and morphological findings in two non-related boys. One of them died in early infancy. The other is thriving at the age of 2 years although he is suffering from a myopathy not distinguishable from Duchenne muscular dystrophy. We discuss when to suspect and how to confirm the diagnosis of infantile GKD, and under what precautions the condition is detectable by commonly used screening procedures for inborn errors of metabolism.
婴儿型甘油激酶缺乏症（GKD）是一种X连锁遗传病，临床特征为肾上腺功能不全和肌肉萎缩症。该酶缺陷导致血液和尿液中甘油水平升高，可用于诊断。若未识别出这种病症，就会错失挽救生命的类固醇治疗及遗传咨询的机会。我们报告了两名无亲缘关系男孩的临床、内分泌、生化和形态学检查结果。其中一名在婴儿早期死亡。另一名虽患有与杜氏肌营养不良症无法区分的肌病，但两岁时发育良好。我们讨论了何时应怀疑以及如何确诊婴儿型GKD，以及在哪些预防措施下可通过常用的先天性代谢缺陷筛查程序检测出该病症。
