Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency Article Swipe
Mayowa A. Osundiji
,
Alicia Chen
,
Joseph Farris
,
Radhika Dhamija
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.7326/aimcc.2025.0080
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.7326/aimcc.2025.0080
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase (mHS) deficiency is an ultra-rare inborn error of ketone body synthesis that is caused by biallelic mutations in HMGCS2. The manifestations of mHS deficiency can include hypoketotic hypoglycemia, metabolic acidosis, lethargy, encephalopathy, hyperammonemia, and hepatomegaly. Here, we report a case of movement disorder following hypoglycemic encephalopathy involving the basal ganglia in a patient with mHS deficiency. Exome sequencing showed novel compound heterozygous variants in HMGCS2, a partial gene deletion (classified as pathogenic) and c.704T>A (p.M235K) variant that was deemed to be likely pathogenic. Our findings suggest that mHS deficiency can result in basal ganglia injury and movement disorder.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.7326/aimcc.2025.0080
- https://www.acpjournals.org/doi/pdf/10.7326/aimcc.2025.0080?download=true
- OA Status
- diamond
- References
- 15
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4412983037
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4412983037Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.7326/aimcc.2025.0080Digital Object Identifier
- Title
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Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) DeficiencyWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
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2025-08-01Full publication date if available
- Authors
-
Mayowa A. Osundiji, Alicia Chen, Joseph Farris, Radhika DhamijaList of authors in order
- Landing page
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https://doi.org/10.7326/aimcc.2025.0080Publisher landing page
- PDF URL
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https://www.acpjournals.org/doi/pdf/10.7326/aimcc.2025.0080?download=trueDirect link to full text PDF
- Open access
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YesWhether a free full text is available
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diamondOpen access status per OpenAlex
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https://www.acpjournals.org/doi/pdf/10.7326/aimcc.2025.0080?download=trueDirect OA link when available
- Concepts
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Internal medicine, Endocrinology, ATP synthase, Medicine, Chemistry, Biochemistry, EnzymeTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
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15Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| referenced_works | https://openalex.org/W4388424642, https://openalex.org/W2763366983, https://openalex.org/W4391460188, https://openalex.org/W2051978340, https://openalex.org/W3135221219, https://openalex.org/W3014951721, https://openalex.org/W2137398448, https://openalex.org/W2809622649, https://openalex.org/W2091261582, https://openalex.org/W2462084537, https://openalex.org/W2067202362, https://openalex.org/W3136277218, https://openalex.org/W2970602468, https://openalex.org/W2016463072, https://openalex.org/W4388516693 |
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