Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency
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, encephalopath...
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| Format: | Article |
| Language: | English |
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American College of Physicians
2025-08-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2025.0080 |
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| author | Mayowa A. Osundiji Alicia Chen Joseph D. Farris Radhika Dhamija |
| author_facet | Mayowa A. Osundiji Alicia Chen Joseph D. Farris Radhika Dhamija |
| author_sort | Mayowa A. Osundiji |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2a907f59bd8e47f1a6ab7d23f08ad70b |
| institution | Kabale University |
| issn | 2767-7664 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | American College of Physicians |
| record_format | Article |
| series | Annals of Internal Medicine: Clinical Cases |
| spelling | doaj-art-2a907f59bd8e47f1a6ab7d23f08ad70b2025-08-20T03:39:31ZengAmerican College of PhysiciansAnnals of Internal Medicine: Clinical Cases2767-76642025-08-014810.7326/aimcc.2025.0080Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) DeficiencyMayowa A. Osundiji0Alicia Chen1Joseph D. Farris2Radhika Dhamija31Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota3Department of Radiology, Mayo Clinic, Scottsdale, Arizona4Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota1Department of Clinical Genomics, Mayo Clinic, Rochester, MinnesotaMitochondrial 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.https://www.acpjournals.org/doi/10.7326/aimcc.2025.0080 |
| spellingShingle | Mayowa A. Osundiji Alicia Chen Joseph D. Farris Radhika Dhamija Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency Annals of Internal Medicine: Clinical Cases |
| title | Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency |
| title_full | Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency |
| title_fullStr | Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency |
| title_full_unstemmed | Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency |
| title_short | Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency |
| title_sort | movement disorder following hypoglycemic encephalopathy in mitochondrial 3 hydroxy 3 methylglutaryl coa synthase 2 mhs deficiency |
| url | https://www.acpjournals.org/doi/10.7326/aimcc.2025.0080 |
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