Javed Anees: Treatable Mitochondrial Disorders We Must Not Miss
Javed Anees, Medical Consultant at Government of Kerala, shared a post on LinkedIn:
“Mitochondria series: 6
Treatable Mitochondrial Disorders: Diagnoses We Must Not Miss
Many disorders presenting with mitochondrial dysfunction are no longer synonymous with untreatable progressive disease.
Advances in metabolic medicine and genomic diagnostics have identified several conditions in which timely recognition and disease-specific therapy can significantly alter outcomes.
I recently prepared this infographic to provide a practical, genetics-first approach to recognizing treatable mitochondrial and mitochondrial-related metabolic disorders, including:
- Biotinidase deficiency
- Holocarboxylase synthetase deficiency
- Primary Coenzyme Q10 deficiency
- Riboflavin transporter deficiency
- Multiple acyl-CoA dehydrogenase deficiency (MADD)
- Pyruvate dehydrogenase complex deficiency
- Primary carnitine deficiency
- Lipid storage myopathies
The poster highlights key clinical red flags, diagnostic pathways, metabolic investigations, disease-specific therapies, and common diagnostic pitfalls, with the aim of supporting clinicians in everyday practice.
The most important message is simple: recognize early, investigate systematically, and initiate appropriate therapy promptly when indicated. For several of these disorders, early intervention may prevent irreversible neurological and systemic complications.
I hope this resource is useful for neurologists, internists, pediatricians, neuromuscular specialists, and trainees involved in the care of patients with suspected mitochondrial disease.
I welcome your comments, suggestions, and discussion.”
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