A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).

@article{PollThe1988ANP,
  title={A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).},
  author={Bwee Tien Poll-The and Frank Roels and H. A. M. Ogier and Jacques M. Scotto and Joseph Vamecq and Ruud B. H. Schutgens and Ronald Wanders and Carlo W T van Roermund and Michel J A Van Wijland and Andr{\'e} W. Schram},
  journal={American journal of human genetics},
  year={1988},
  volume={42 3},
  pages={422-34}
}
In the present paper two siblings are presented with clinical manifestations very similar to those of patients affected by neonatal adrenoleukodystrophy. In contrast to neonatal adrenoleukodystrophy patients, hepatic peroxisomes in these siblings were enlarged in size and not decreased in number. Accumulation of very-long-chain fatty acids (VLCFA) was associated with an isolated deficiency of the fatty acyl-CoA oxidase, the enzyme that catalyzes the first step of the peroxisomal beta-oxidation… CONTINUE READING
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