Zellweger syndrome

A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

Acidemia

An abnormally low blood pH (usually defined as less than 7.35).


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PMID (PMCID)
2628705
 MALE Infant
Zellweger syndrome, retinal involvement.
Stanesu-Segal B, Evrard P.
Metab Pediatr Syst Ophthalmol (1985). 1989;12(4):96-9.
Progresses in biochemistry permit one to distinguish three biochemical forms of Zellweger Syndrome: 1) hyperpipecolic acidemia, 2) neonatal adrenoleukodystrophy, and 3) infantile Refsum's disease, which have similar clinical manifestations.
2418187
 MIXED_SAMPLE Infant, Newborn
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
Budden SS, Kennaway NG, Buist NR, Poulos A, Weleber RG.
J Pediatr. 1986;108(1):33-9.
Its relationship to neonatal adrenoleukodystrophy, hyperpipecolic acidemia, and Zellweger syndrome is discussed.