HMG‐CoA Synthase‐2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease

HMG‐CoA Synthase‐2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease

ABSTRACT Mitochondrial HMG‐CoA synthase‐2 (HMGCS2) deficiency is characterized by hypoketotic hypoglycemia, metabolic acidosis, hepatomegaly, and encephalopathy with onset between 3 and 36 months of age. Approximately 50 cases were reported worldwide. We describe two patients with HMGCS2 deficiency....

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Main Authors: Hathaipat Vaseenon, Thipwimol Tim‐Aroon, Vitchayaporn Emarach Saengow, Areeporn Sangcakul, Parith Wongkittichote, Arthaporn Khongkraparn, Duangrurdee Wattanasirichaigoon
Format: Article
Language:English
Published: Wiley 2025-07-01
Series:JIMD Reports
Subjects:
HMGCS2
hyperammonemia
hypoglycemia
metabolic acidosis
Online Access:https://doi.org/10.1002/jmd2.70028
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https://doi.org/10.1002/jmd2.70028

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