Abstract
The case study presents a 3-year-old boy diagnosed with a mild form of 3-methylglutaconic aciduria. During infancy and early childhood, he had lactic acidosis, dilated cardiomyopathy and failure to thrive with growth retardation. A genetic analysis revealed a mutated TMEM70 gene.
Received: 2012-7-21
Accepted: 2012-9-18
Published Online: 2012-11-01
Published in Print: 2013-02-01
©2013 by Walter de Gruyter Berlin Boston
Sie haben derzeit keinen Zugang zu diesem Inhalt.
Sie haben derzeit keinen Zugang zu diesem Inhalt.
Artikel in diesem Heft
- Masthead
- Masthead
- Review Article
- Clinical and diagnostic characteristics of hyperprolactinemia in childhood and adolescence
- Images in Pediatric Endocrinology
- Early occurrence of cerebral white matter abnormality detected in a neonate with salt-wasting congenital adrenal hyperplasia
- Original Articles
- Pentoxifylline treatment for protecting diabetic retinopaty in children with type 1 diabetes
- Absence of diabetes mellitus type 2 in obese children and adolescents in the north of Spain
- Ceramide mediates inhibition of the Akt/eNOS pathway by high levels of glucose in human vascular endothelial cells
- Short- and middle-term continuous use of cinacalcet in children on peritoneal dialysis
- Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene
- Arginine-guanidinoacetate-creatine pathway in preterm newborns: creatine biosynthesis in newborns
- The effect of different nutritional states on puberty onset and the expression of hypothalamic Kiss1/kisspepetin
- Celiac disease and dermatitis herpetiformis in Brazilian twins: a long-term follow-up and screening of their relatives
- Glucocorticoid receptor expression in whole blood with preterm infants
- Trends in hospitalizations among children with type 1 diabetes in Spain, 2001–2009
- Effects of a combined intervention for treating severely obese prepubertal children
- Vitamin D levels, insulin resistance, and cardiovascular risks in very young obese children
- Prevalence of metabolic syndrome in children and adolescents — the recent trends in South Korea
- Elevated visfatin levels in obese children are related to proinflammatory factors
- Patient reports
- A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies
- Immune thrombocytopenic purpura in a child with thyroid hormone resistance – a rare presentation
- Attempted suicide with levothyroxine in an adolescent girl
- Differentiated thyroid carcinoma in a girl with resistance to thyroid hormone management with triiodothyroacetic acid
- Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy
- DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas
- Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation
- Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes
- Conn syndrome and Crohn disease in a pediatric case: an interesting parallel
- Adolescent ischemic stroke associated with anabolic steroid and cannabis abuse
- Anorexia nervosa in a patient with congenital adrenal hyperplasia
- Severe hypothalamopituitary dysfunction accompanied by influenza-associated encephalopathy: report of two pediatric cases
- Octreotide-induced hepatitis in a child with persistent hyperinsulinemia hypoglycemia of infancy
- Hepatitis in an infant treated with octreotide for congenital hyperinsulinism
- Letters to the Editor
- Delayed cord clamping in full-term neonates: is it time for outlining exclusion criteria?
- And what about cord blood cardiac troponin I (cTnI) levels as an inclusion criterion for therapeutic hypothermia after perinatal asphyxia?
- Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD
- Association of the interferon-γ (IFN-γ) gene polymorphism with endometriosis: is epidermal growth factor (EGF) the key-mediator?
Artikel in diesem Heft
- Masthead
- Masthead
- Review Article
- Clinical and diagnostic characteristics of hyperprolactinemia in childhood and adolescence
- Images in Pediatric Endocrinology
- Early occurrence of cerebral white matter abnormality detected in a neonate with salt-wasting congenital adrenal hyperplasia
- Original Articles
- Pentoxifylline treatment for protecting diabetic retinopaty in children with type 1 diabetes
- Absence of diabetes mellitus type 2 in obese children and adolescents in the north of Spain
- Ceramide mediates inhibition of the Akt/eNOS pathway by high levels of glucose in human vascular endothelial cells
- Short- and middle-term continuous use of cinacalcet in children on peritoneal dialysis
- Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene
- Arginine-guanidinoacetate-creatine pathway in preterm newborns: creatine biosynthesis in newborns
- The effect of different nutritional states on puberty onset and the expression of hypothalamic Kiss1/kisspepetin
- Celiac disease and dermatitis herpetiformis in Brazilian twins: a long-term follow-up and screening of their relatives
- Glucocorticoid receptor expression in whole blood with preterm infants
- Trends in hospitalizations among children with type 1 diabetes in Spain, 2001–2009
- Effects of a combined intervention for treating severely obese prepubertal children
- Vitamin D levels, insulin resistance, and cardiovascular risks in very young obese children
- Prevalence of metabolic syndrome in children and adolescents — the recent trends in South Korea
- Elevated visfatin levels in obese children are related to proinflammatory factors
- Patient reports
- A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies
- Immune thrombocytopenic purpura in a child with thyroid hormone resistance – a rare presentation
- Attempted suicide with levothyroxine in an adolescent girl
- Differentiated thyroid carcinoma in a girl with resistance to thyroid hormone management with triiodothyroacetic acid
- Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy
- DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas
- Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation
- Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes
- Conn syndrome and Crohn disease in a pediatric case: an interesting parallel
- Adolescent ischemic stroke associated with anabolic steroid and cannabis abuse
- Anorexia nervosa in a patient with congenital adrenal hyperplasia
- Severe hypothalamopituitary dysfunction accompanied by influenza-associated encephalopathy: report of two pediatric cases
- Octreotide-induced hepatitis in a child with persistent hyperinsulinemia hypoglycemia of infancy
- Hepatitis in an infant treated with octreotide for congenital hyperinsulinism
- Letters to the Editor
- Delayed cord clamping in full-term neonates: is it time for outlining exclusion criteria?
- And what about cord blood cardiac troponin I (cTnI) levels as an inclusion criterion for therapeutic hypothermia after perinatal asphyxia?
- Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD
- Association of the interferon-γ (IFN-γ) gene polymorphism with endometriosis: is epidermal growth factor (EGF) the key-mediator?