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Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine.

作者信息

Roesel R A, Carroll J E, Rizzo W B, van der Zalm T, Hahn D A

机构信息

Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912.

出版信息

J Inherit Metab Dis. 1991;14(6):876-80. doi: 10.1007/BF01800466.

DOI:10.1007/BF01800466
PMID:1779646
Abstract

A child with the Dyggve-Melchior-Clausen syndrome associated with elevated pipecolic acid levels in plasma and urine is described. Other studies of peroxisomal function, including phytanic acid, very long-chain fatty acids, and plasmalogen synthesis, were normal. This disorder may represent an incompletely characterized defect in peroxisomal metabolism.

摘要

相似文献

1
Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine.
J Inherit Metab Dis. 1991;14(6):876-80. doi: 10.1007/BF01800466.
2
Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.婴儿型雷夫叙姆病：提示多种过氧化物酶体功能障碍的生化检查结果
J Inherit Metab Dis. 1986;9(2):169-74. doi: 10.1007/BF01799455.
3
Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease.经典型雷夫叙姆病中的过氧化物酶体功能：与婴儿型雷夫叙姆病的比较。
J Neurol Sci. 1988 Apr;84(2-3):147-55. doi: 10.1016/0022-510x(88)90120-7.
4
Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia.高哌可酸血症中的过氧化物酶体及过氧化物酶体功能
J Inherit Metab Dis. 1988;11 Suppl 2:161-4. doi: 10.1007/BF01804225.
5
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.脑肝肾综合征：诊断、预防及治疗中的生化程序
J Inherit Metab Dis. 1987;10 Suppl 1:33-45. doi: 10.1007/BF01812845.
6
[Peroxisomal disorders; newer concept and recent studies].
Nihon Rinsho. 1990 Mar;48(3):629-38.
7
[Biochemistry of peroxisome and peroxisomal diseases].[过氧化物酶体的生物化学与过氧化物酶体疾病]
Ann Biol Clin (Paris). 1988;46(4):233-58.
8
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease.伴有类似韦尼克-霍夫曼病的神经肌肉疾病的过氧化物酶体生物发生缺陷。
Neurology. 1998 Nov;51(5):1427-32. doi: 10.1212/wnl.51.5.1427.
9
Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids.假性婴儿型雷夫叙姆病：过氧化氢酶缺乏的过氧化物酶体颗粒，伴有缩醛磷脂合成和脂肪酸氧化部分缺陷。
Pediatr Res. 1993 Sep;34(3):270-6. doi: 10.1203/00006450-199309000-00006.
10
Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.与植烷酸蓄积和缩醛磷脂合成缺陷相关的骨发育异常：一种可进行血浆置换治疗的过氧化物酶体疾病。
J Inherit Metab Dis. 1992;15(3):377-80. doi: 10.1007/BF02435981.

引用本文的文献

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Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.运用 ClinGen 临床有效性框架评估与过氧化物酶体疾病相关基因的证据强度，并更新过氧化物酶体疾病命名法。
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Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.迪格维-梅尔基奥尔-克劳森综合征：来自九个无关家庭的15例埃及患者的临床、遗传学及放射学研究
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本文引用的文献

1
Morquio-Ullrich's Disease: An Inborn Error of Metabolism?莫尔基奥 - 乌尔里希病：一种先天性代谢缺陷病？
Arch Dis Child. 1962 Oct;37(195):525-34. doi: 10.1136/adc.37.195.525.
2
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.肾上腺脑白质营养不良：血浆中饱和极长链脂肪酸含量增加。
Neurology. 1981 Oct;31(10):1241-9. doi: 10.1212/wnl.31.10.1241.
3
Adrenoleukodystrophy: very long-chain fatty acid metabolism in fibroblasts.肾上腺脑白质营养不良：成纤维细胞中极长链脂肪酸代谢
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
迪格维-梅尔基奥尔-克劳森综合征基因的纯合性定位至18号染色体q21.1区域。
J Med Genet. 2002 Oct;39(10):714-7. doi: 10.1136/jmg.39.10.714.
Neurology. 1984 Feb;34(2):163-9. doi: 10.1212/wnl.34.2.163.
4
Hyperpipecolic acidemia in neonatal adrenoleukodystrophy.新生儿肾上腺脑白质营养不良中的高哌可酸血症
Am J Med Genet. 1984 Dec;19(4):791-5. doi: 10.1002/ajmg.1320190420.
5
Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity.舍格伦-拉尔松综合征。由于脂肪醇：烟酰胺腺嘌呤二核苷酸氧化还原酶活性不足，培养的成纤维细胞中脂肪醇氧化受损。
J Clin Invest. 1988 Mar;81(3):738-44. doi: 10.1172/JCI113379.
6
Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia.高哌可酸血症中的过氧化物酶体及过氧化物酶体功能
J Inherit Metab Dis. 1988;11 Suppl 2:161-4. doi: 10.1007/BF01804225.
7
Pipecolic acid is oxidized by renal and hepatic peroxisomes. Implications for Zellweger's cerebro-hepato-renal syndrome (CHRS).哌可酸被肾和肝过氧化物酶体氧化。对泽尔韦格脑肝肾综合征（CHRS）的影响。
Exp Cell Res. 1986 May;164(1):267-71. doi: 10.1016/0014-4827(86)90475-1.
8
Biochemical abnormalities in rhizomelic chondrodysplasia punctata.点状骨骺发育异常的生化异常
J Pediatr. 1988 May;112(5):726-33. doi: 10.1016/s0022-3476(88)80689-9.
9
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.伴有植烷酸氧化酶缺乏、异常极长链脂肪酸和哌啶酸血症的畸形综合征：对四名儿童的研究
J Pediatr. 1986 Jan;108(1):33-9. doi: 10.1016/s0022-3476(86)80765-x.