Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Pre-symptomatic, Therapeutic management, Diagnosis
Combined oxidative phosphorylation deficiency-8 (COXPD8) is an autosomal recessive disorder caused by dysfunction of the mitochondrial respiratory chain. The main clinical manifestation is a lethal infantile hypertrophic cardiomyopathy, but there may also be subtle skeletal muscle and brain involvement. Biochemical studies show combined respiratory chain complex deficiencies in complexes I, III, and IV in cardiac muscle, skeletal muscle, and brain. The liver is not affected (summary by Gotz et al., 2011).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
- Lactic acidosis
- Hypertrophic cardiomyopathy
- Cardiomegaly
- Congestive heart failure
- EEG abnormality
- Metabolic acidosis
- Feeding difficulties
- Pulmonary hypoplasia
- Hyporeflexia
- Generalized muscle weakness
- Increased serum lactate
- Increased variability in muscle fiber diameter
- Motor delay
- Failure to thrive
- Decreased activity of mitochondrial complex I
- Staring gaze
- Decreased activity of mitochondrial complex IV
- Cytochrome C oxidase-negative muscle fibers
- Reduced left ventricular ejection fraction
Show allThe Invitae Leukodystrophy and Genetic Leukoencephaly Panel has been developed to offer a broad, symptom-based approach to diagnosing heritable conditions that affect the white matter of the central nervous system, with or without peripheral nervous system involvement. This panel also evaluates genes associated with conditions that do not fit the strict definition of leukodystrophy, but nevertheless affect the white matter of the brain, such as certain inborn errors of metabolism, congenital muscular dystrophies with significant white matter involvement, progressive neurodegenerative disorders, and other neuronal disorders that affect myelination. Multiple nuclear-encoded genes associated with mitochondrial dysfunction that may result in white matter abnormalities have been included, however mitochondrial DNA is not evaluated by this panel. Conditions associated with repeat expansions are not included on this panel. This panel includes genes that confer risk for both an autosomal recessive leukodystrophy and an autosomal dominant increased risk for cancer (i.e. FH, MDH2, PTEN, SAMD9L, SDHA, SDHB, SETBP1, SHOC2, TSC1, TSC2). This panel includes genes associated with both childhood onset and adult onset conditions, such as CSF1R, AARS, AP5Z1, SQSTM1 and PDGFRB. When ordering this panel, you can de-select these genes to exclude them from the analysis.
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