MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis – A case report

Pyal, Anjan; Paramasivam, Arumugam; Meena, A K; Bhavana, Velpula Bhagya; Thangaraj, Kumarasamy

doi:10.1016/j.mito.2017.06.006

Cited by 5 publications

(2 citation statements)

References 18 publications

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“…PC type C patients tend to present later than the other two subtypes and consistent with other reported cases, our patient presented in infancy (►Table 1). Acute reversible flaccid paralysis with absent reflexes was the predominant clinical sign, and this has not previously been described in PC Type C. However, other metabolic diseases of energy production such as mitochondrial DNA depletion syndrome 16 and PDH deficiency 17 have also been reported to cause acute flaccid paralysis. This likely reflects the impairment in ATP production, common to all of these disorders.…”

Section: Discussionmentioning

confidence: 81%

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis

et al. 2018

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Pyruvate carboxylase (PC) is a biotin-containing enzyme that is responsible for the adenosine triphosphate-dependent carboxylation of pyruvate to oxaloacetate, a key intermediate in the tricarboxylic acid cycle. PC deficiency (OMIM 266150) is a rare autosomal recessive metabolic disease, causing elevation of pyruvate, lactate, and alanine. Three types of PC deficiency have been described in the literature; A, B, and C. Type A PC deficiency, also called infantile or North American type, is characterized by infantile onset acidosis, failure to thrive, and developmental delay. The second subtype or type B, the neonatal or French form, presents usually in the neonatal period, mostly in the first 72 hours of life with severe lactic acidosis, truncal hypotonia, and seizures. The third type is called type C, is extremely rare with few cases published in the literature. In this case report, we present an 11-month-old girl who presented with acute flaccid paralysis, lethargy, and constipation with elevated ketones and lactate. She was confirmed genetically and biochemically to have PC deficiency type C. The patient's unusual presentation expands the clinical phenotype of this extremely rare disease.

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Section: Discussionmentioning

confidence: 81%

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis

et al. 2018

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“…The mpv17 mutant mice developed mitochondrial DNA depletion, late-onset glomerulosclerosis, hair graying, and the neurodegeneration of the peripheral nervous system [ 1 , 4 , 5 , 29 ]. In the humans, many mutations of this gene had been reported, and the mpv17 mutation was associated with mitochondrial DNA depletion syndrome and caused death during early childhood [ 17 , 30 , 31 ]. The different phenotypes between our mutant zebrafish and the tra or roy lines possibly because of the different truncated mpv17 proteins.…”

Section: Discussionmentioning

confidence: 99%

Loss of mpv17 affected early embryonic development via mitochondria dysfunction in zebrafish

Bian

Xie

et al. 2021

Cell Death Discov.

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MVP17 encodes a mitochondrial inner-membrane protein, and mutation of human MVP17 can cause mitochondria DNA depletion syndrome (MDDS). However, the underlying function of mpv17 is still elusive. Here, we developed a new mutant with mpv17 knockout by using the CRISPR/Cas9 system. The mpv17−/− zebrafish showed developmental defects in muscles, liver, and energy supply. The mpv17−/− larvae hardly survived beyond a month, and they showed abnormal growth during the development stage. Abnormal swimming ability was also found in the mpv17−/− zebrafish. The transmission electron microscope (TEM) observation indicated that the mpv17−/− zebrafish underwent severe mitochondria dysfunction and the disorder of mitochondrial cristae. As an energy producer, the defects of mitochondria significantly reduced ATP content in mpv17−/− zebrafish, compared to wild-type zebrafish. We hypothesized that the disorder of mitochondria cristae was contributed to the dysfunction of muscle and liver in the mpv17−/− zebrafish. Moreover, the content of major energy depot triglycerides (TAG) was decreased dramatically. Interestingly, after rescued with normal exogenous mitochondria by microinjection, the genes involved in the TAG metabolism pathway were recovered to a normal level. Taken together, this is the first report of developmental defects in muscles, liver, and energy supply via mitochondria dysfunction, and reveals the functional mechanism of mpv17 in zebrafish.

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Mitochondrial diseases in South Asia – A systematic review

2022

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MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis – A case report

Cited by 5 publications

References 18 publications

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis

Loss of mpv17 affected early embryonic development via mitochondria dysfunction in zebrafish

Mitochondrial diseases in South Asia – A systematic review

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