A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA)
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Chen Fang
Abstract
Hyperinsulinism-hyperammonemia (HI/HA) syndrome, often characterized by recurrent symptomatic hypoglycemia and persistent hyperammonemia, is the second most frequent cause of the congenital hyperinsulinism (CHI). Here, we reported a patient with normal birth weight, repeated seizures, untreatable hypoglycemia, and persistent, mild hyperammonemia. The genetic diagnosis revealed that the patient carried a heterozygous, de novo missense mutation (N410I, c.1401A>T) in the glutamate dehydrogenase 1 gene (GLUD1). The patient was treated with diazoxide, which significantly alleviated the hypoglycemia. CT and MRI brain scanning at different developmental stages revealed large-scale brain damage in the front lobe. Severe neurodevelopment deficits were identified in the follow-up.
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©2016 by De Gruyter
Articles in the same Issue
- Frontmatter
- Review
- Role of nutrition in preventing insulin resistance in children
- Original Articles
- Reduced frequency and severity of ketoacidosis at diagnosis of childhood type 1 diabetes in Northwest Saudi Arabia
- Differences in parental involvement in the care of children and adolescents with type 1 diabetes mellitus on multiple daily insulin injections versus continuous subcutaneous insulin infusion
- Value of the intrarenal arterial resistivity indices and different renal biomarkers for early identification of diabetic nephropathy in type 1 diabetic patients
- Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with KATP channel mutations
- Relationship between visceral obesity and plasma fibrinogen in obese children
- Diagnostic approach in children with unusual symptoms of acquired hypothyroidism. When to look for pituitary hyperplasia?
- The shortened combined clonidine and arginine test for growth hormone deficiency is practical and specific: a diagnostic accuracy study
- Bone maturation along the spectrum from normal weight to obesity: a complex interplay of sex, growth factors and weight gain
- Outcomes analysis of radioactive iodine and total thyroidectomy for pediatric Graves’ disease
- Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation
- Odontoiatric perspectives and osteonecrosis of the jaw as a possible adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome
- The relation of urinary bisphenol A with kisspeptin in girls diagnosed with central precocious puberty and premature thelarche
- Pattern of teen menstruation among secondary school girls in south east Nigeria
- Should children with isolated premature adrenarche be routinely evaluated for non-classical congenital adrenal hyperplasia?
- Anxiety, depression and self-esteem levels in obese children: a case-control study
- Case Reports
- Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2
- Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis
- A first case report of UDP-galactose-4′-epimerase deficiency in China: genotype and phenotype
- A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA)
- Letter to the Editor
- Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn
Articles in the same Issue
- Frontmatter
- Review
- Role of nutrition in preventing insulin resistance in children
- Original Articles
- Reduced frequency and severity of ketoacidosis at diagnosis of childhood type 1 diabetes in Northwest Saudi Arabia
- Differences in parental involvement in the care of children and adolescents with type 1 diabetes mellitus on multiple daily insulin injections versus continuous subcutaneous insulin infusion
- Value of the intrarenal arterial resistivity indices and different renal biomarkers for early identification of diabetic nephropathy in type 1 diabetic patients
- Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with KATP channel mutations
- Relationship between visceral obesity and plasma fibrinogen in obese children
- Diagnostic approach in children with unusual symptoms of acquired hypothyroidism. When to look for pituitary hyperplasia?
- The shortened combined clonidine and arginine test for growth hormone deficiency is practical and specific: a diagnostic accuracy study
- Bone maturation along the spectrum from normal weight to obesity: a complex interplay of sex, growth factors and weight gain
- Outcomes analysis of radioactive iodine and total thyroidectomy for pediatric Graves’ disease
- Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation
- Odontoiatric perspectives and osteonecrosis of the jaw as a possible adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome
- The relation of urinary bisphenol A with kisspeptin in girls diagnosed with central precocious puberty and premature thelarche
- Pattern of teen menstruation among secondary school girls in south east Nigeria
- Should children with isolated premature adrenarche be routinely evaluated for non-classical congenital adrenal hyperplasia?
- Anxiety, depression and self-esteem levels in obese children: a case-control study
- Case Reports
- Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2
- Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis
- A first case report of UDP-galactose-4′-epimerase deficiency in China: genotype and phenotype
- A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA)
- Letter to the Editor
- Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn
