TY - JOUR
T1 - Peroxisomal Disorders
T2 - A Review of a Recently Recognized Group of Clinical Entities
AU - Talwar, Dinesh
AU - Swaiman, Kenneth F.
PY - 1987/10
Y1 - 1987/10
N2 - The peroxisome is a small organelle present in almost all cells. The peroxisomal disorders are a newly recognized group of disease entities that share structural and/or functional abnormalities of the peroxisomes, are inherited, and may have profound neurologic and systemic effects. Some of the disorders lack peroxisomes in cells, while others have single or multiple peroxisomal enzymatic deficiencies despite the presence of normally appearing peroxisomes. The prototype of the peroxisomal disorders is Zellweger syndrome. X-linked adrenoleukodystrophy, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidemia and Refsum disease are some of the other disease entities presently classified as peroxisomal disorders. Accurate methods of pre- and postnatal diagnosis are available. Treatment strategies are being developed, but at this time prenatal diagnosis and appropriate genetic counseling is the best therapeutic intervention for those peroxisomal disorders characterized by profound neurologic handicap and early death.
AB - The peroxisome is a small organelle present in almost all cells. The peroxisomal disorders are a newly recognized group of disease entities that share structural and/or functional abnormalities of the peroxisomes, are inherited, and may have profound neurologic and systemic effects. Some of the disorders lack peroxisomes in cells, while others have single or multiple peroxisomal enzymatic deficiencies despite the presence of normally appearing peroxisomes. The prototype of the peroxisomal disorders is Zellweger syndrome. X-linked adrenoleukodystrophy, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidemia and Refsum disease are some of the other disease entities presently classified as peroxisomal disorders. Accurate methods of pre- and postnatal diagnosis are available. Treatment strategies are being developed, but at this time prenatal diagnosis and appropriate genetic counseling is the best therapeutic intervention for those peroxisomal disorders characterized by profound neurologic handicap and early death.
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U2 - 10.1177/000992288702601001
DO - 10.1177/000992288702601001
M3 - Article
C2 - 2443295
AN - SCOPUS:0023611044
SN - 0009-9228
VL - 26
SP - 497
EP - 504
JO - Clinical Pediatrics
JF - Clinical Pediatrics
IS - 10
ER -