Glutaric acidemia type Ⅱ （GAⅡ）, also known as multiple acyl-CoA dehydrogenase defciency, is an auto-somal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAⅡ with novel electro...Glutaric acidemia type Ⅱ （GAⅡ）, also known as multiple acyl-CoA dehydrogenase defciency, is an auto-somal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAⅡ with novel electron transfer flavoprotein （ETF）-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicityon the postnatal first day. Laboratory investigations revealed elevations of multiple acyl carnitines indicat-ing glutaric acidemia type Ⅱ in newborn screening analysis. Urinary organic acids were evaluated for the confrmation and revealed a high glutaric acid excretion. Genetic analysis revealed two novel mutations in the ETF-A gene, which are considered to be compound heterozygote. At the 8 mo of life ketone therapy was added, which significantly increased the neuromotor development. The patient had been closely followed for two years with carnitine, ribofavin, coenzyme Q10, and ketone supplementation in addition to a high carbohydrate diet. Although the patient had comorbidity like thalassemia minor, her neuromotor developmentwas normal for her age and had no major health problems. This specific case expands the previously reported spectrum of this disease.展开更多
Background:Glutaric acidemia type I(GA-I)is a rare metabolic disorder caused by mutation of the glutaryl-CoA dehydrogenase(GCDH)gene.The occurrence of rhabdomyolysis with GA-I is extremely rare.Methods:We reported a c...Background:Glutaric acidemia type I(GA-I)is a rare metabolic disorder caused by mutation of the glutaryl-CoA dehydrogenase(GCDH)gene.The occurrence of rhabdomyolysis with GA-I is extremely rare.Methods:We reported a child with recurrent rhabdomyolysis and undiagnosed glutaric acidemia type I(GA-I).And a literature review was performed.Results:A 4.5-year-old girl was admitted to our hospital due to recurrent rhabdomyolysis for 3 times within three years.At the third admission,she was diagnosed with GA-I by biochemical testing and mutation analysis.The girl was found to have a serine to leucine replacement mutation of the GCDH gene in exon 8 at position 764.Other three patients with rhabdomyolysis and GA-I were discovered by literature searching.Conclusion:This report highlights that patients with GA-I may have an increased risk of rhabdomyolysis.展开更多
文摘Glutaric acidemia type Ⅱ （GAⅡ）, also known as multiple acyl-CoA dehydrogenase defciency, is an auto-somal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAⅡ with novel electron transfer flavoprotein （ETF）-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicityon the postnatal first day. Laboratory investigations revealed elevations of multiple acyl carnitines indicat-ing glutaric acidemia type Ⅱ in newborn screening analysis. Urinary organic acids were evaluated for the confrmation and revealed a high glutaric acid excretion. Genetic analysis revealed two novel mutations in the ETF-A gene, which are considered to be compound heterozygote. At the 8 mo of life ketone therapy was added, which significantly increased the neuromotor development. The patient had been closely followed for two years with carnitine, ribofavin, coenzyme Q10, and ketone supplementation in addition to a high carbohydrate diet. Although the patient had comorbidity like thalassemia minor, her neuromotor developmentwas normal for her age and had no major health problems. This specific case expands the previously reported spectrum of this disease.
基金This study was supported by the National Natural Science Foundation of China(81170664).
文摘Background:Glutaric acidemia type I(GA-I)is a rare metabolic disorder caused by mutation of the glutaryl-CoA dehydrogenase(GCDH)gene.The occurrence of rhabdomyolysis with GA-I is extremely rare.Methods:We reported a child with recurrent rhabdomyolysis and undiagnosed glutaric acidemia type I(GA-I).And a literature review was performed.Results:A 4.5-year-old girl was admitted to our hospital due to recurrent rhabdomyolysis for 3 times within three years.At the third admission,she was diagnosed with GA-I by biochemical testing and mutation analysis.The girl was found to have a serine to leucine replacement mutation of the GCDH gene in exon 8 at position 764.Other three patients with rhabdomyolysis and GA-I were discovered by literature searching.Conclusion:This report highlights that patients with GA-I may have an increased risk of rhabdomyolysis.
