Lethal very long-chain acyl-coa dehydrogenase deficiency with a novel mutation
Gazi Medical Journal, cilt.30, sa.3, ss.323-324, 2019 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 30 Sayı: 3
- Basım Tarihi: 2019
- Doi Numarası: 10.12996/gmj.2019.83
- Dergi Adı: Gazi Medical Journal
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.323-324
- Anahtar Kelimeler: Cardiomyopathy, Children, Hypoglycemia, Very long chain acyl-CoA dehydrogenase deficiency
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Hayır
Özet
Very long chain acyl-CoA dehydrogenase deficiency is an autosomal recessive genetic disorder in which the first step in the mitochondrial β-oxidation of fatty acids for 14-20 carbons is defective. Clinical presentation is heterogeneous ranging from the severe neonatal form presenting with hypo-ketotic hypoglycemia, liver dysfunction and rapidly fatal cardiomyopathy with episodes of hypo-ketotic hypoglycemia in infants. Herein we report a patient with novel homozygous missense mutation c. 1391C>A in exon 14 with a severe neonatal onset type who presented with hypoketotic hypoglycemia, cardiomyopathy and hepatomegaly.