What features make up the NMDAS?

NMDAS scores current function (current functional domains), current clinical features (CNS, neuromuscular, sensory, cardiac, liver, etc.), and quality of life on a 0-160 scale with higher scores indicating worse disease.

What supplements have evidence in mitochondrial disease?

Riboflavin (vitamin B2) in ACAD9 and complex I deficiencies, CoQ10 in CoQ10 deficiency, thiamine in PDHc deficiency, and vitamin E/C as antioxidants have best evidence; general "mitochondrial cocktail" evidence is weak.

What is MELAS syndrome?

MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like episodes) is caused by m.3243A>G variant in MT-TL1; stroke-like episodes are not ischemic but are metabolic/excitotoxic.

When should metformin be avoided in mitochondrial disease?

Metformin inhibits mitochondrial complex I, potentially worsening energy failure; it should be avoided in patients with mitochondrial cytopathies, especially those with complex I defects or elevated lactate.

What is the role of valproate avoidance in mitochondrial disease?

Valproate inhibits fatty acid beta-oxidation and respiratory chain function; it should be avoided in mitochondrial disease (especially POLG mutations) due to risk of acute liver failure and status epilepticus.

Mitochondrial Respiratory Chain Deficiency Clinical Score

Calculates clinical severity of mitochondrial respiratory chain deficiency using the NMDAS (Newcastle Mitochondrial Disease Adult Scale) or Newcastle Pediatric Mitochondrial Disease Scale, with mitochondrial disease criteria.

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Mitochondrial Respiratory Chain Deficiency Clinical Score

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Frequently Asked Questions

What features make up the NMDAS?

What supplements have evidence in mitochondrial disease?

What is MELAS syndrome?

When should metformin be avoided in mitochondrial disease?

What is the role of valproate avoidance in mitochondrial disease?