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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| Asıl Yazarlar: | , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Wiley
2025-07-01
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| Seri Bilgileri: | JIMD Reports |
| Konular: | |
| Online Erişim: | https://doi.org/10.1002/jmd2.70028 |
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