Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Parikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel‐Guitton, Catherine; Christodoulou, John; Cohen, Bruce H.; Dimmock, David; Enns, Gregory M.; Falk, Marni J.; Feigenbaum, Annette; Frye, Richard E.; Ganesh, Jaya; Griesemer, David A.; Haas, Richard; Horvath, Rita; Korson, Mark S.; Kruer, Michael C.; Mancuso, Michelangelo; McCormack, Shana E.; Raboisson, Marie‐Josée; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P.; Scaglia, Fernando; Shoffner, John M.; Stacpoole, Peter W.; Sue, Carolyn M.; Tarnopolsky, Mark A.; Karnebeek, Clara van; Wolfe, Lynne A.; Cunningham, Zarazuela Zolkipli; Rahman, Shamima; Chinnery, Patrick F.

doi:10.1038/gim.2017.107

Cited by 204 publications

(219 citation statements)

References 95 publications

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“…We note the metabolic decompensation during relatively mild intercurrent illnesses, a known phenomenon in several inborn error of metabolism due to increased catabolism and high-energy demand that unmask the vulnerability of dysfunctional mitochondria. 8,9 We also note the neuroregression with intercurrent illnesses which is also well described in several mitochondrial disorders. 8,10 Some of our subjects had movement disorders and evidence of basal ganglia lesions on brain imaging.…”

Section: Discussionmentioning

confidence: 66%

“…The severity of the disease in our subjects was highly variable, even within the same family, ranging from transient lactic acidosis to severe recurrent metabolic decompensations with associated developmental regression, epilepsy and severe dystonia. We note the metabolic decompensation during relatively mild intercurrent illnesses, a known phenomenon in several inborn error of metabolism due to increased catabolism and high‐energy demand that unmask the vulnerability of dysfunctional mitochondria . We also note the neuroregression with intercurrent illnesses which is also well described in several mitochondrial disorders .…”

Section: Discussionmentioning

confidence: 74%

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Expanding the phenotype of SLC25A42‐associated mitochondrial encephalomyopathy

et al. 2018

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SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Coenzyme A into the mitochondrial matrix. A mutation in this gene was recently reported in a subject born to consanguineous parents who presented with mitochondrial myopathy with muscle weakness and lactic acidosis. In this report, we present 12 additional individuals with the same founder mutation who presented with variable manifestations ranging from asymptomatic lactic acidosis to a severe phenotype characterized by developmental regression and epilepsy. Our report confirms the link between SLC25A42 and mitochondrial disease in humans, and suggests that pathogenic variants in SLC25A42 should be interpreted with the understanding that the associated phenotype may be highly variable.

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Section: Discussionmentioning

confidence: 66%

Section: Discussionmentioning

confidence: 74%

Expanding the phenotype of SLC25A42‐associated mitochondrial encephalomyopathy

et al. 2018

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“…Accurate genetic diagnosis of a PMD allows care providers and affected families to better understand the condition, for the provision of appropriate genetic counselling, and for the development of targeted therapies. For some PMDs where the natural history is better known, clinicians and families can more accurately predict the disease course and provide appropriate clinical management and preventative care 59. The need for a genetic diagnosis in PMD is now essential for eligibility in clinical trials.…”

Section: Introductionmentioning

confidence: 99%

Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

et al. 2019

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Primary genetic mitochondrial diseases are often difficult to diagnose, and the term ‘possible’ mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of ‘possible’ mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisation of ‘diagnosis uncertain’, together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed.

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“…Strict nutrition management, critical for metabolic stability to promote growth and development, may include reliance on a gastrostomy tube for bolus or continuous feeding or implementation of a “sick day” diet. Physiological stressors (intercurrent illnesses, trauma, and surgery) and dietary indiscretions are leading factors for metabolic decompensation associated with hospital admissions and may result in high morbidity, pronounced neurological deficits, and perhaps death . Although lifesaving, the specialized nutrition regimens and medications may be precursors of parental stress that impact family lives .…”

Section: Introductionmentioning

confidence: 99%

Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices

Lea

Shchelochkov

Cleary

et al. 2018

J Parenter Enteral Nutr

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Background Propionic acidemia (PA), an autosomal recessive metabolic disorder, has an estimated incidence of 1:105,000–130,000 in the United States.1,2 Nutrition management is a main intervention for PA. Research in inborn errors of metabolism such as phenylketonuria has identified association of parental perceptions and practices with dietary outcomes. Parental perceptions and practices in the nutrition management of PA have not been investigated. Objective To assess the dietary perceptions and practices of parental caregivers of children affected by PA. Methods PA parents were surveyed about perceptions and practices associated with feeding their affected child(ren). The single‐page survey was anonymous, and responses to survey items were not identifiable. Parents provided information on how often they followed the prescribed diet and the rationale for any adjustments. Results Parents “always” or “most of the time” followed the prescribed diet for children 4–20 years of age; yet, open‐ended responses indicated that 71.4% made situational adjustments to their child's diet for a variety of reasons, including illness, iatrogenic effects, and social events. Conclusions PA parents make situational adjustments to their child's highly specialized diet. Uncertainty exists as to the situational adjustments being within the guidelines used by the metabolic healthcare team who rely on parents to inform them about dietary situational adjustments.

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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Cited by 204 publications

References 95 publications

Expanding the phenotype of SLC25A42‐associated mitochondrial encephalomyopathy

Expanding the phenotype of SLC25A42‐associated mitochondrial encephalomyopathy

Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices

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