Onset of Glycogen Storage Disease Type Ⅻ in Two Brothers in the Neonatal Period
10.3881/j.issn.1000-503X.15874
- VernacularTitle:兄弟两人因糖原累积病Ⅻ在新生儿期发病的病例分析
- Author:
Yanbo SUN
1
;
Cunyu LI
;
Min CHEN
Author Information
1. 滕州市妇幼保健院临床药学管理科,山东滕州 277599
- Keywords:
glycogen storage disease;
aldolase A deficiency;
neonatus;
amyasthenia;
anemia
- From:
Acta Academiae Medicinae Sinicae
2024;46(4):636-640
- CountryChina
- Language:Chinese
-
Abstract:
Glycogen storage diseases(GSDs)are a group of autosomal recessive disorders of glucose metabolism.GSDs are caused by congenital deficiency of enzymes in glycogen synthesis or decomposition,which results in glycogen accumulation in organs.According to the types of enzyme deficiency,GSDs can be classified into more than ten types,among which GSD Ⅻ is a super-rare type of GSD.Two brothers with a 5-year age difference presented severe neonatal asphyxia,myasthenia,myocardial damage,anemia,and mental retarda-tion,being GSD Ⅻ homozygous cases with neonatal onset.The results of gene detection showed that nucleotide and amino acid alterations(c.619G＞A,p.E207K)of the ALDOA gene existed in the two brothers,being ho-mozygous,and the genotypes in the parents were heterozygous.This article summarized the clinical features,di-agnosis,and treatment of GSD Ⅻ,providing reference for exploring the etiology and treatment of severe asphyxia,myasthenia,anemia,and multiple organ damage in neonates after birth.
