Literature DB >> 1779646

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

R A Roesel1, J E Carroll, W B Rizzo, T van der Zalm, D A Hahn.   

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.

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Year:  1991        PMID： 1779646     DOI： 10.1007/bf01800466

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  9 in total

1.  Morquio-Ullrich's Disease: An Inborn Error of Metabolism?

Authors:  H V Dyggve; J C Melchior; J Clausen
Journal:  Arch Dis Child       Date:  1962-10       Impact factor: 3.791

2.  Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia.

Authors:  R J Wanders; C W van Roermund; M J van Wijland; R B Schutgens; J M Tager; H van den Bosch; G H Thomas
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity.

Authors:  W B Rizzo; A L Dammann; D A Craft
Journal:  J Clin Invest       Date:  1988-03       Impact factor: 14.808

4.  Pipecolic acid is oxidized by renal and hepatic peroxisomes. Implications for Zellweger's cerebro-hepato-renal syndrome (CHRS).

Authors:  K Zaar; S Angermüller; A Völkl; H D Fahimi
Journal:  Exp Cell Res       Date:  1986-05       Impact factor: 3.905

5.  Adrenoleukodystrophy: very long-chain fatty acid metabolism in fibroblasts.

Authors:  W B Rizzo; J Avigan; J Chemke; J D Schulman
Journal:  Neurology       Date:  1984-02       Impact factor: 9.910

6.  Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.

Authors:  S S Budden; N G Kennaway; N R Buist; A Poulos; R G Weleber
Journal:  J Pediatr       Date:  1986-01       Impact factor: 4.406

7.  Biochemical abnormalities in rhizomelic chondrodysplasia punctata.

Authors:  G Hoefler; S Hoefler; P A Watkins; W W Chen; A Moser; V Baldwin; B McGillivary; J Charrow; J M Friedman; L Rutledge
Journal:  J Pediatr       Date:  1988-05       Impact factor: 4.406

8.  Hyperpipecolic acidemia in neonatal adrenoleukodystrophy.

Authors:  R I Kelley; H W Moser
Journal:  Am J Med Genet       Date:  1984-12

9.  Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.

Authors:  H W Moser; A B Moser; K K Frayer; W Chen; J D Schulman; B P O'Neill; Y Kishimoto
Journal:  Neurology       Date:  1981-10       Impact factor: 9.910
  9 in total
  2 in total

1.  Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.

Authors:  C Thauvin-Robinet; V El Ghouzzi; W Chemaitilly; N Dagoneau; O Boute; G Viot; A Mégarbané; A Sefiani; A Munnich; M Le Merrer; V Cormier-Daire
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

2.  Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.

Authors:  Mona S Aglan; Samia A Temtamy; Ekram Fateen; Adel M Ashour; Khamis Eldeeb; Gamal A Hosny
Journal:  J Child Orthop       Date:  2009-10-09       Impact factor: 1.548
  2 in total

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