Martinez M
Biomedical Research Unit, Maternity-Children Hospital, Ciudad Sanitaria Valle de Hebron, Barcelona, Spain.
Brain Res. 1992 Jun 26;583(1-2):171-82. doi: 10.1016/s0006-8993(10)80021-6.
The polyunsaturated fatty acid (PUFA) composition of the brain was studied in 8 patients with Zellweger's syndrome (ZS), 3 with neonatal adrenoleukodystrophy (NALD), one with bifunctional enzyme deficiency (BED), one with X-linked adrenoleukodystrophy (X-ALD), and one with adrenomyeloneuropathy (AMN). The PUFA composition of the liver, kidney and retina was studied in 8, 6 and 1 patients with ZS, respectively. An infant with NALD and a child with rhizomelic chondrodysplasia punctata (RCDP) were also studied for the PUFA composition of the liver. The liver and kidney of the patient with X-ALD and the liver of the patient with AMN were included in the study. The fatty acid values in the peroxisomal patients were compared with control data obtained in the normal developing brain (38 cases), liver (9 cases), kidney (7 cases) and retina (16 cases). The brain of a patient with metachromatic leukodystrophy (MLD) and the liver of a child with Krabbe's disease (KD) were also studied for comparison. The most constant and severe abnormality in all the peroxisomal patients was a drastic decrease in the total amount of docosahexaenoic acid (22:6 omega 3), especially in the brain. The other product of delta 4-desaturation, 22:5 omega 6, was generally decreased in the brain, liver and kidney of the ZS patients, but very much increased in the brain of two patients with NALD. The 22:6 omega 3/22:4 omega 6 ratio, which remains quite constant throughout normal brain development, was consistently decreased in the peroxisomal brain, in ZS as well as in NALD. This study confirms that, in classical Zellweger's syndrome, the two products of delta 4-desaturation are affected. In contrast, in neonatal adrenoleukodystrophy the deficiency is probably restricted to the omega 3 product of delta 4-desaturation, docosahexaenoic acid, especially in the brain, while the other product, 22:5 omega 6, is either normal or increased, perhaps in an attempt to compensate for the 22:6 omega 3 deficiency in brain membranes.
对8例脑肝肾综合征（ZS）患者、3例新生儿肾上腺脑白质营养不良（NALD）患者、1例双功能酶缺乏症（BED）患者、1例X连锁肾上腺脑白质营养不良（X-ALD）患者和1例肾上腺脊髓神经病（AMN）患者的大脑多不饱和脂肪酸（PUFA）组成进行了研究。分别对8例、6例和1例ZS患者的肝脏、肾脏和视网膜的PUFA组成进行了研究。还对1例NALD婴儿和1例点状软骨发育不良（RCDP）儿童的肝脏PUFA组成进行了研究。纳入研究的还有X-ALD患者的肝脏和肾脏以及AMN患者的肝脏。将过氧化物酶体病患者的脂肪酸值与正常发育大脑（38例）、肝脏（9例）、肾脏（7例）和视网膜（16例）的对照数据进行比较。还对1例异染性脑白质营养不良（MLD）患者的大脑和1例克拉伯病（KD）儿童的肝脏进行了研究以作比较。所有过氧化物酶体病患者中最持续和严重的异常是二十二碳六烯酸（22:6ω3）总量急剧下降，尤其是在大脑中。δ4去饱和的另一种产物22:5ω6在ZS患者的大脑、肝脏和肾脏中通常减少，但在2例NALD患者的大脑中大幅增加。在正常大脑发育过程中保持相当恒定的22:6ω3/22:4ω6比值在过氧化物酶体病患者的大脑中，无论是ZS还是NALD，都持续下降。本研究证实，在典型的脑肝肾综合征中，δ4去饱和的两种产物均受影响。相比之下，在新生儿肾上腺脑白质营养不良中，缺陷可能仅限于δ4去饱和的ω3产物二十二碳六烯酸，尤其是在大脑中，而另一种产物22:5ω6要么正常要么增加，这可能是为了补偿脑膜中22:6ω3的缺乏。
