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π CustomizeMedical Overview of Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3
Sources citedCombined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
Classification & codes: GARD 0017035 · Orphanet ORPHA:168566 · OMIM 610505 · ICD-10 E88.8
Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β not medical advice.
News & Updates
ALYFTREK shows positive Phase 3 results in children ages 2β5
Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.
Airway clearance routines that actually work for teens

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Care & management overview — Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3
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Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3 News & Developments
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Preferences only β saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
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Preferences only β saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
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Sources citedAn annual snapshot of Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3 research, treatment access and outcomes, written in plain language for patients and families.
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Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3.
Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β not medical advice.