Metabolic testing in mitochondrial disease.

Abstract:

:Mitochondrial oxidative phosphorylation (OXPHOS) disorders are a heterogeneous group of diseases with variable expression that often pose diagnostic dilemmas. Although definitive diagnosis of these disorders usually requires a muscle biopsy and mtDNA and enzymatic testing, standard metabolic studies including organic acid and amino acid analysis often provide useful findings that support an OXPHOS disease and the need for more invasive studies. In addition, the detection of possible metabolic derangements, such as elevated lactate levels, may lead to improved long-term outcomes for affected patients through the use of various treatment regimens. Similarly, long-term yearly monitoring of diagnosed OXPHOS patients with metabolic testing is also warranted.

journal_name

Semin Neurol

journal_title

Seminars in neurology

authors

Dougherty FE

doi

10.1055/s-2001-17947

subject

Has Abstract

pub_date

2001-09-01 00:00:00

pages

303-8

issue

3

eissn

0271-8235

issn

1098-9021

journal_volume

21

pub_type

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