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Javed Anees: Treatable Mitochondrial Disorders We Must Not Miss

Javed Anees/LinkedIn

Jul 29, 2026, 06:03

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.”

Javed Anees: Treatable Mitochondrial Disorders We Must Not Miss