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Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.
Arch Neurol. 2005 Feb; 62(2):317-20.AN

Abstract

BACKGROUND

Primary coenzyme Q(10) (CoQ(10)) deficiency is rare. The encephalomyopathic form, described in few families, is characterized by exercise intolerance, recurrent myoglobinuria, developmental delay, ataxia, and seizures.

OBJECTIVE

To report a rare manifestation of CoQ(10) deficiency with isolated mitochondrial myopathy without central nervous system involvement.

METHODS

The patient was evaluated for progressive muscle weakness. Comprehensive clinical evaluation and muscle biopsy were performed for histopathologic analysis and mitochondrial DNA and respiratory chain enzyme studies. The patient began taking 150 mg/d of a CoQ(10) supplement.

RESULTS

The elevated creatine kinase and lactate levels with abnormal urine organic acid and acylcarnitine profiles in this patient suggested a mitochondrial disorder. Skeletal muscle histochemical evaluation revealed ragged red fibers, and respiratory chain enzyme analyses showed partial reductions in complex I, I + III, and II + III activities with greater than 200% of normal citrate synthase activity. The CoQ(10) concentration in skeletal muscle was 46% of the normal reference mean. The in vitro addition of 50 micromol/L of coenzyme Q(1) to the succinate cytochrome-c reductase assay of the patient's skeletal muscle whole homogenate increased the succinate cytochrome-c reductase activity 8-fold compared with 2.8-fold in the normal control homogenates. Follow-up of the patient in 6 months demonstrated significant clinical improvement with normalization of creatine kinase and lactate levels.

CONCLUSIONS

The absence of central nervous system involvement and recurrent myoglobinuria expands the clinical phenotype of this treatable mitochondrial disorder. The complete recovery of myopathy with exogenous CoQ(10) supplementation observed in this patient highlights the importance of early identification and treatment of this genetic disorder.

Authors+Show Affiliations

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. seemal@bcm.tmc.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.

Language

eng

PubMed ID

15710863

Citation

Lalani, Seema R., et al. "Isolated Mitochondrial Myopathy Associated With Muscle Coenzyme Q10 Deficiency." Archives of Neurology, vol. 62, no. 2, 2005, pp. 317-20.
Lalani SR, Vladutiu GD, Plunkett K, et al. Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch Neurol. 2005;62(2):317-20.
Lalani, S. R., Vladutiu, G. D., Plunkett, K., Lotze, T. E., Adesina, A. M., & Scaglia, F. (2005). Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Archives of Neurology, 62(2), 317-20.
Lalani SR, et al. Isolated Mitochondrial Myopathy Associated With Muscle Coenzyme Q10 Deficiency. Arch Neurol. 2005;62(2):317-20. PubMed PMID: 15710863.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. AU - Lalani,Seema R, AU - Vladutiu,Georgirene D, AU - Plunkett,Katie, AU - Lotze,Timothy E, AU - Adesina,Adekunle M, AU - Scaglia,Fernando, PY - 2005/2/16/pubmed PY - 2005/4/2/medline PY - 2005/2/16/entrez SP - 317 EP - 20 JF - Archives of neurology JO - Arch Neurol VL - 62 IS - 2 N2 - BACKGROUND: Primary coenzyme Q(10) (CoQ(10)) deficiency is rare. The encephalomyopathic form, described in few families, is characterized by exercise intolerance, recurrent myoglobinuria, developmental delay, ataxia, and seizures. OBJECTIVE: To report a rare manifestation of CoQ(10) deficiency with isolated mitochondrial myopathy without central nervous system involvement. METHODS: The patient was evaluated for progressive muscle weakness. Comprehensive clinical evaluation and muscle biopsy were performed for histopathologic analysis and mitochondrial DNA and respiratory chain enzyme studies. The patient began taking 150 mg/d of a CoQ(10) supplement. RESULTS: The elevated creatine kinase and lactate levels with abnormal urine organic acid and acylcarnitine profiles in this patient suggested a mitochondrial disorder. Skeletal muscle histochemical evaluation revealed ragged red fibers, and respiratory chain enzyme analyses showed partial reductions in complex I, I + III, and II + III activities with greater than 200% of normal citrate synthase activity. The CoQ(10) concentration in skeletal muscle was 46% of the normal reference mean. The in vitro addition of 50 micromol/L of coenzyme Q(1) to the succinate cytochrome-c reductase assay of the patient's skeletal muscle whole homogenate increased the succinate cytochrome-c reductase activity 8-fold compared with 2.8-fold in the normal control homogenates. Follow-up of the patient in 6 months demonstrated significant clinical improvement with normalization of creatine kinase and lactate levels. CONCLUSIONS: The absence of central nervous system involvement and recurrent myoglobinuria expands the clinical phenotype of this treatable mitochondrial disorder. The complete recovery of myopathy with exogenous CoQ(10) supplementation observed in this patient highlights the importance of early identification and treatment of this genetic disorder. SN - 0003-9942 UR - https://www.unboundmedicine.com/medline/citation/15710863/Isolated_mitochondrial_myopathy_associated_with_muscle_coenzyme_Q10_deficiency_ L2 - https://jamanetwork.com/journals/jamaneurology/fullarticle/10.1001/archneur.62.2.317 DB - PRIME DP - Unbound Medicine ER -