A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)
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Mohammad Miryounesi
Abstract
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease caused by mutations in the BCKDHA, BCKDHB, DBT and DLD genes, which encode the E1α, E1β, E2 and E3 subunits of the branched chain α ketoacid dehydrogenase (BCKD) complex, respectively. This complex is involved in the metabolism of branched-chain amino acids. In this study, we analyzed the DNA sequences of BCKDHA and BCKDHB genes in an infant who suffered from MSUD and died at the age of 6 months. We found a new missense mutation in exon 5 of BCKDHB gene (c.508C>T). The heterozygosity of the parents for the mentioned nucleotide change was confirmed by direct sequence analysis of the corresponding segment. Another missense mutation has been found in the same codon previously and shown by in silico analyses to be deleterious. This report provides further evidence that this amino acid change can cause classic MSUD.
References
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©2015 by De Gruyter
Articles in the same Issue
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Articles in the same Issue
- Frontmatter
- Highlight: Obesity
- Childhood obesity at the crossroads
- Obesogenic environments: environmental approaches to obesity prevention
- Childhood obesity and eating behaviour
- Hypothalamic obesity in children: pathophysiology to clinical management
- The reliability of body mass index in the diagnosis of obesity and metabolic risk in children
- Determining abdominal obesity cut-offs and relevant risk factors for anthropometric indices in Turkish children and adolescents
- The effect of body mass index on blood pressure varies by race among obese children
- Insulin secretion response during oral glucose tolerance test is related to low cardiorespiratory fitness in obese adolescents
- Is there a relationship between cardiovascular risk factors and dehydroepiandrosterone sulfate levels in childhood obesity?
- The effect of lifestyle change and metformin therapy on serum arylesterase and paraoxonase activity in obese children
- Childhood obesity, thyroid function, and insulin resistance – is there a link? A longitudinal study
- Associations between IGF-I, IGF-binding proteins and bone turnover markers in prepubertal obese children
- Osteocalcin is inversely associated with adiposity and leptin in adolescent boys
- Association between cardiovascular risk factors and carotid intima-media thickness in prepubertal Brazilian children
- Insulin resistance and cardiometabolic risk factors in obese children and adolescents: a hierarchical approach
- The role of apolipoprotein E polymorphism in improving dyslipidemia in obese adolescents following physical exercise and National Cholesterol Education Program Step II intervention
- Review article
- Is ultrasound useful in the diagnosis of adolescents with polycystic ovary syndrome?
- Original articles
- IGF-II expression and methylation in small for gestational age infants
- Early screening of FTO and MC4R variants in newborns of Greek origin
- Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
- The prevalence of vitamin D deficiency among schoolchildren: a cohort study from Xinxiang, China
- Management of testosterone therapy in adolescents and young men with hypogonadism: are we following adult clinical practice guidelines?
- Vitamin D status and its associations with components of metabolic syndrome in healthy children
- Metformin treatment improves weight and dyslipidemia in children with metabolic syndrome
- Patient reports
- Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene
- Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy
- An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening
- A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)
- Ovotesticular disorder of sex development with unusual karyotype: patient report
- First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China
- Virilizing adrenal oncocytoma in a 9-year-old girl: rare neoplasm with an intriguing postoperative course
- Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency
- Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation
- Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia
- Hyperthyroidism hidden by congenital central hypoventilation syndrome
- The use of pamidronate for acute vitamin D intoxication, clinical experience with three cases
- Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis
- Cushing syndrome related to leukemic infiltration of the central nervous system
- Hashimoto’s encephalopathy: a rare pediatric brain disease
- Short communication
- A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy
