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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Bibliografische gegevens

Hoofdauteurs:	Hathaipat Vaseenon, Thipwimol Tim‐Aroon, Vitchayaporn Emarach Saengow, Areeporn Sangcakul, Parith Wongkittichote, Arthaporn Khongkraparn, Duangrurdee Wattanasirichaigoon
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	Wiley 2025-07-01
Reeks:	JIMD Reports
Onderwerpen:	HMGCS2 hyperammonemia hypoglycemia metabolic acidosis
Online toegang:	https://doi.org/10.1002/jmd2.70028
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