Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1995 Aug;9(4):407-11.
doi: 10.1007/BF00866711.

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain

A A Morris  1 , R W Taylor, M A Birch-Machin, M J Jackson, M G Coulthard, L A Bindoff, R J Welch, N Howell, D M Turnbull
Affiliations
Case Reports

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain

A A Morris et al. Pediatr Nephrol. 1995 Aug.

Abstract

Fanconi syndrome is an important presentation of respiratory chain disease. We report three patients who presented in the neonatal period with Fanconi syndrome, lactic acidosis and intrauterine growth retardation. In all three patients the major biochemical defect was in complex III of the mitochondrial respiratory chain, a relatively uncommon defect. The diagnosis could only be made by muscle biopsy as the defect was not expressed in cultured skin fibroblasts. Treatment with vitamins C and K3 and ubiquinone did not alter the course of the disease and all patients died before the age of 4 months.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3529-33 - PubMed
    1. Am J Hum Genet. 1992 Feb;50(2):364-70 - PubMed
    1. Biochemistry. 1988 Sep 6;27(18):7021-31 - PubMed
    1. Biochem J. 1988 Jul 15;253(2):541-7 - PubMed
    1. Am J Hum Genet. 1993 Sep;53(3):663-9 - PubMed

Publication types