Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV.

作者信息

Rubio-Gozalbo M E, Ruitenbeek W, Bentlage H A, Schägger H, Sengers R C, Trijbels J M, ter Laak H J, Mariman E C, Bakker M M, de Jager J, Smeitink J A

机构信息

Department of Paediatrics, University Children's Hospital Nijmegen, The Netherlands.

出版信息

Eur J Pediatr. 1997 Dec;156(12):931-4. doi: 10.1007/s004310050745.

DOI:10.1007/s004310050745

PMID:9453375

Abstract

UNLABELLED

An infant with severe deficiency of complex III combined with less severe deficiencies of complexes I, II and IV of the mitochondrial respiratory chain in skeletal muscle tissue presented with intra-uterine growth retardation, generalized hypotonia and delayed motor development. In the following 3.5 years muscle tone and motor development gradually normalized whereas the lactic acidosis and enzyme activities did not improve.

CONCLUSION

This report documents a favourable clinical course in a child with combined respiratory chain deficiency despite persistent biochemical abnormalities.

摘要