TY - JOUR
T1 - Review
T2 - The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects
AU - Kelley, R. I.
PY - 1983
Y1 - 1983
N2 - The cerebrohepatorenal syndrome of Zellweger (CHRS) is remarkable not only for a distinctive combination of congenital anomalies, but also for an unusual variety of profound metabolic disturbances. After a discussion of the clinical diagnosis of CHRS, abnormalities in the metabolism of peroxisomes, mitochondria, iron, pipecolic acid, glycogen, bile acids, and organic acids are discussed and related to the clinical and other biochemical findings in the syndrome. Attention is also drawn to syndromes with biochemical or clinical abnormalities similar to those of CHRs. Although the biochemical findings indicate major abnormalities in oxidative metabolism, the primary defect remains obscure.
AB - The cerebrohepatorenal syndrome of Zellweger (CHRS) is remarkable not only for a distinctive combination of congenital anomalies, but also for an unusual variety of profound metabolic disturbances. After a discussion of the clinical diagnosis of CHRS, abnormalities in the metabolism of peroxisomes, mitochondria, iron, pipecolic acid, glycogen, bile acids, and organic acids are discussed and related to the clinical and other biochemical findings in the syndrome. Attention is also drawn to syndromes with biochemical or clinical abnormalities similar to those of CHRs. Although the biochemical findings indicate major abnormalities in oxidative metabolism, the primary defect remains obscure.
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U2 - 10.1002/ajmg.1320160409
DO - 10.1002/ajmg.1320160409
M3 - Review article
C2 - 6362411
AN - SCOPUS:0021047742
SN - 0148-7299
VL - 16
SP - 503
EP - 517
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 4
ER -