Shahar E, Brand N, Shapira Y, Barash V, Gutman A
Department of Pediatrics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
J Neurol Neurosurg Psychiatry. 1988 Feb;51(2):298-300. doi: 10.1136/jnnp.51.2.298.
Carnitine deficiency occurring in families has been rarely reported and the genetic transmission has not yet been clearly elucidated. Five members of one family showing marked heterogeneity of carnitine deficiency states are presented. In three patients, there was no correlation between measurable carnitine levels in serum and muscle and the clinical findings. The parents, who are remote relatives from an isolated village in Kurdistan (Iraq), had low muscle carnitine levels; however, they were asymptomatic. One son, with systemic carnitine deficiency causing muscle weakness and recurrent episodes of severe hepatic encephalopathy, died at 3 years of age. His brother had mild proximal muscle weakness associated with low muscle carnitine levels. He was successfully treated with L-carnitine and prednisone. A daughter is asymptomatic, but with low serum and muscle levels of carnitine. The marked heterogeneity of carnitine deficiency states within one family, where both parents had low muscle carnitine levels, suggests an autosomal recessive inheritance with variable expression.
家族性肉碱缺乏症鲜有报道，其遗传传递方式尚未明确阐明。本文介绍了一个家族的五名成员，他们表现出明显的肉碱缺乏状态异质性。在三名患者中，血清和肌肉中可测量的肉碱水平与临床症状之间没有相关性。父母是来自伊拉克库尔德斯坦一个与世隔绝村庄的远亲，他们的肌肉肉碱水平较低；然而，他们没有症状。一个儿子患有全身性肉碱缺乏症，导致肌肉无力和反复出现严重肝性脑病发作，3岁时死亡。他的哥哥有轻度近端肌肉无力，伴有低肌肉肉碱水平。他通过左旋肉碱和泼尼松成功治疗。一个女儿没有症状，但血清和肌肉中的肉碱水平较低。在一个家族中，父母双方肌肉肉碱水平都较低，肉碱缺乏状态存在明显异质性，提示为常染色体隐性遗传，表现可变。
