Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

Ann B. Moser, Magnhild Rasmussen, Sakkubai Naidu, Paul A. Watkins, Martina McGuinness, Amiya K. Hajra, Grace Chen, Gerald Raymond, Angela Liu, Donald Gordon, Karen Garnaas, David S. Walton, Ola H. Skjeldal, Mary Anne Guggenheim, Laird G. Jackson, Ellen Roy Elias, Hugo W. Moser

Research output: Contribution to journalArticle

Abstract

Objective: To use the technique of complementation analysis to help define genotype and classify patients with clinical manifestations consistent with those of the disorders of peroxisome assembly, namely the Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP). Study design: Clinical findings, peroxisomal function, and complementation groups were examined in 173 patients with the clinical manifestations of these disorders. Results: In 37 patients (21%), peroxisome assembly was intact and isolated deficiencies of one of five peroxisomal enzymes involved in the β-oxidation of fatty acids or plasmalogen biosynthesis were demonstrated. Ten complementation groups were identified among 93 patients (54%) with impaired peroxisome assembly and one of three phenotypes (ZS, NALD, or IRD) without correlation between complementation group and phenotype. Forty-three patients (25%) had impaired peroxisome assembly associated with the RCDP phenotype and belonged to a single complementation group. Of the 173 patients, 10 had unusually mild clinical manifestations, including survival to the fifth decade or deficits limited to congenital cataracts. Conclusions: At least 16 complementation groups, and hence genotypes, are associated with clinical manifestations of disorders of peroxisome assembly. The range of phenotype is wide, and some patients have mild involvement. (J PEDIATR 1995;127:13-22).

Original languageEnglish (US)
Pages (from-to)13-22
Number of pages10
JournalJournal of Pediatrics
Volume127
Issue number1
DOIs
StatePublished - 1995
Externally publishedYes

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Peroxisomal Disorders
Peroxisomes
Phenotype
Infantile Refsum's Disease
Rhizomelic Chondrodysplasia Punctata
Zellweger Syndrome
Genotype
Plasmalogens
Cataract
Fatty Acids
Survival
Enzymes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. / Moser, Ann B.; Rasmussen, Magnhild; Naidu, Sakkubai; Watkins, Paul A.; McGuinness, Martina; Hajra, Amiya K.; Chen, Grace; Raymond, Gerald; Liu, Angela; Gordon, Donald; Garnaas, Karen; Walton, David S.; Skjeldal, Ola H.; Guggenheim, Mary Anne; Jackson, Laird G.; Elias, Ellen Roy; Moser, Hugo W.

In: Journal of Pediatrics, Vol. 127, No. 1, 1995, p. 13-22.

Research output: Contribution to journalArticle

Moser, AB, Rasmussen, M, Naidu, S, Watkins, PA, McGuinness, M, Hajra, AK, Chen, G, Raymond, G, Liu, A, Gordon, D, Garnaas, K, Walton, DS, Skjeldal, OH, Guggenheim, MA, Jackson, LG, Elias, ER & Moser, HW 1995, 'Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups', Journal of Pediatrics, vol. 127, no. 1, pp. 13-22. https://doi.org/10.1016/S0022-3476(95)70250-4
Moser, Ann B. ; Rasmussen, Magnhild ; Naidu, Sakkubai ; Watkins, Paul A. ; McGuinness, Martina ; Hajra, Amiya K. ; Chen, Grace ; Raymond, Gerald ; Liu, Angela ; Gordon, Donald ; Garnaas, Karen ; Walton, David S. ; Skjeldal, Ola H. ; Guggenheim, Mary Anne ; Jackson, Laird G. ; Elias, Ellen Roy ; Moser, Hugo W. / Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. In: Journal of Pediatrics. 1995 ; Vol. 127, No. 1. pp. 13-22.
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abstract = "Objective: To use the technique of complementation analysis to help define genotype and classify patients with clinical manifestations consistent with those of the disorders of peroxisome assembly, namely the Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP). Study design: Clinical findings, peroxisomal function, and complementation groups were examined in 173 patients with the clinical manifestations of these disorders. Results: In 37 patients (21{\%}), peroxisome assembly was intact and isolated deficiencies of one of five peroxisomal enzymes involved in the β-oxidation of fatty acids or plasmalogen biosynthesis were demonstrated. Ten complementation groups were identified among 93 patients (54{\%}) with impaired peroxisome assembly and one of three phenotypes (ZS, NALD, or IRD) without correlation between complementation group and phenotype. Forty-three patients (25{\%}) had impaired peroxisome assembly associated with the RCDP phenotype and belonged to a single complementation group. Of the 173 patients, 10 had unusually mild clinical manifestations, including survival to the fifth decade or deficits limited to congenital cataracts. Conclusions: At least 16 complementation groups, and hence genotypes, are associated with clinical manifestations of disorders of peroxisome assembly. The range of phenotype is wide, and some patients have mild involvement. (J PEDIATR 1995;127:13-22).",
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T1 - Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

AU - Moser, Ann B.

AU - Rasmussen, Magnhild

AU - Naidu, Sakkubai

AU - Watkins, Paul A.

AU - McGuinness, Martina

AU - Hajra, Amiya K.

AU - Chen, Grace

AU - Raymond, Gerald

AU - Liu, Angela

AU - Gordon, Donald

AU - Garnaas, Karen

AU - Walton, David S.

AU - Skjeldal, Ola H.

AU - Guggenheim, Mary Anne

AU - Jackson, Laird G.

AU - Elias, Ellen Roy

AU - Moser, Hugo W.

PY - 1995

Y1 - 1995

N2 - Objective: To use the technique of complementation analysis to help define genotype and classify patients with clinical manifestations consistent with those of the disorders of peroxisome assembly, namely the Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP). Study design: Clinical findings, peroxisomal function, and complementation groups were examined in 173 patients with the clinical manifestations of these disorders. Results: In 37 patients (21%), peroxisome assembly was intact and isolated deficiencies of one of five peroxisomal enzymes involved in the β-oxidation of fatty acids or plasmalogen biosynthesis were demonstrated. Ten complementation groups were identified among 93 patients (54%) with impaired peroxisome assembly and one of three phenotypes (ZS, NALD, or IRD) without correlation between complementation group and phenotype. Forty-three patients (25%) had impaired peroxisome assembly associated with the RCDP phenotype and belonged to a single complementation group. Of the 173 patients, 10 had unusually mild clinical manifestations, including survival to the fifth decade or deficits limited to congenital cataracts. Conclusions: At least 16 complementation groups, and hence genotypes, are associated with clinical manifestations of disorders of peroxisome assembly. The range of phenotype is wide, and some patients have mild involvement. (J PEDIATR 1995;127:13-22).

AB - Objective: To use the technique of complementation analysis to help define genotype and classify patients with clinical manifestations consistent with those of the disorders of peroxisome assembly, namely the Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP). Study design: Clinical findings, peroxisomal function, and complementation groups were examined in 173 patients with the clinical manifestations of these disorders. Results: In 37 patients (21%), peroxisome assembly was intact and isolated deficiencies of one of five peroxisomal enzymes involved in the β-oxidation of fatty acids or plasmalogen biosynthesis were demonstrated. Ten complementation groups were identified among 93 patients (54%) with impaired peroxisome assembly and one of three phenotypes (ZS, NALD, or IRD) without correlation between complementation group and phenotype. Forty-three patients (25%) had impaired peroxisome assembly associated with the RCDP phenotype and belonged to a single complementation group. Of the 173 patients, 10 had unusually mild clinical manifestations, including survival to the fifth decade or deficits limited to congenital cataracts. Conclusions: At least 16 complementation groups, and hence genotypes, are associated with clinical manifestations of disorders of peroxisome assembly. The range of phenotype is wide, and some patients have mild involvement. (J PEDIATR 1995;127:13-22).

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