Rare Diseases Symptoms Automatic Extraction

Zellweger syndrome and secondary mitochondrial myopathy.

[zellweger syndrome]

Defects in peroxisomes such as those associated with Zellweger syndrome (ZS) can influence diverse intracellular metabolic pathways, including mitochondrial functioning. We report on an 8-month-old female infant and a 6-month-old female infant with typical clinical, radiological and laboratory features of Zellweger syndrome; light microscopic and ultrastructural evidence of mitochondrial pathology in their muscle biopsies; and homozygous pathogenic mutations of the PEX16 gene (c.460 + 5G > A) and the PEX 12 gene (c.888_889 del p.Leu297Thrfs*12), respectively. Additionally, mitochondrial respiratory chain enzymology analysis in the first girl showed a mildly low activity in complexes II-III and IV. We also review five children previously reported in the literature with a presumptive diagnosis of ZS and additional mitochondrial findings in their muscle biopsies. In conclusion, this is the first study of patients with a molecularly confirmed peroxisomal disorder with features of a concomitant mitochondrial myopathy and underscores the role of secondary mitochondrial dysfunction in Zellweger syndrome, potentially contributing to the clinical phenotype.

Diseases presenting "first study" symptom

  • achondroplasia
  • acute rheumatic fever
  • alexander disease
  • aniridia
  • coats disease
  • congenital adrenal hyperplasia
  • cowden syndrome
  • dystrophic epidermolysis bullosa
  • erythropoietic protoporphyria
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • krabbe disease
  • locked-in syndrome
  • oculocutaneous albinism
  • primary effusion lymphoma
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome
  • zellweger syndrome

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