过氧化物酶体生物发生障碍 2B
基因病名称(英)
Peroxisome biogenesis disorder 2B
关键字(英)
Peroxisome biogenesis disorder
别名(英)
Peroxisome biogenesis disorder 2B (NALD/IRD),Peroxisome biogenesis disorder 2B (neonatal adrenoleukodystrophy/infantile Refsum disease)
别名
过氧化物酶体生物发生障碍 2B (NALD/IRD)，过氧化物酶体生物发生障碍 2B（新生儿肾上腺脑白质营养不良/婴儿 Refsum 病）
统计
reviewed:1; annotated:0
交叉引用
202370,C0282525,C3550234,D052919
描述(英)
A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
描述
一种过氧化物酶体生物发生障碍，包括新生儿肾上腺脑白质营养不良 (NALD) 和婴儿 Refsum 病 (IRD)，这是 Zellweger 疾病谱的两种较温和的表现。NALD 和 IRD 患者的临床过程是可变的，可能包括发育迟缓、肌张力减退、肝功能障碍、感觉神经性听力损失、视网膜营养不良和视力障碍。患有 NALD 表现的儿童可能会长到十几岁，而患有 IRD 表现的患者可能会长到成年。临床状况通常是缓慢进展的，特别是在听力和视力丧失方面。生化异常包括植烷酸、超长链脂肪酸 (VLCFA)、二羟基和三羟基胆甾烷酸和哌可酸的积累。