Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation
-
Neslihan Önenli Mungan
,
Deniz Kör
Abstract
Although propionic acidemia (PA) is a devastating inherited metabolic disease, with early diagnosis and advanced treatment strategies prognosis gets better and girls can survive to child-bearing ages. We share the detailed follow-up data of the pregnancy, successful labor with cesarean section and a healthy baby of a Turkish patient with PA.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
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©2016 by De Gruyter
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Translation and psychometric properties of the Persian version of self-management of type 1 diabetes for adolescents
- Generic and disease-specific quality of life in adolescents with type 1 diabetes: comparison to age-matched healthy peers
- Relationship between HOMA-IR and serum vitamin D in Chinese children and adolescents
- Low 25-hydroxyvitamin D level is not an independent risk factor for hepatosteatosis in obese children
- Pediatric thyroid nodules: ultrasonographic characteristics and inter-observer variability in prediction of malignancy
- Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism
- Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates
- High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism
- Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels
- Association between physical activity and bone in children with Prader-Willi syndrome
- CNDP1 genotype and renal survival in pediatric nephropathies
- 17-Hydroxyprogesterone responses to human chorionic gonadotropin are not associated with serum anti-Mullerian hormone levels among adolescent girls with polycystic ovary syndrome
- Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China
- Case Reports
- Sertoli cell only syndrome with ambiguous genitalia
- Childhood parathyroid adenoma: a rare but important cause of nephrolithiasis
- A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review
- Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation
- Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene
- Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Translation and psychometric properties of the Persian version of self-management of type 1 diabetes for adolescents
- Generic and disease-specific quality of life in adolescents with type 1 diabetes: comparison to age-matched healthy peers
- Relationship between HOMA-IR and serum vitamin D in Chinese children and adolescents
- Low 25-hydroxyvitamin D level is not an independent risk factor for hepatosteatosis in obese children
- Pediatric thyroid nodules: ultrasonographic characteristics and inter-observer variability in prediction of malignancy
- Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism
- Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates
- High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism
- Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels
- Association between physical activity and bone in children with Prader-Willi syndrome
- CNDP1 genotype and renal survival in pediatric nephropathies
- 17-Hydroxyprogesterone responses to human chorionic gonadotropin are not associated with serum anti-Mullerian hormone levels among adolescent girls with polycystic ovary syndrome
- Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China
- Case Reports
- Sertoli cell only syndrome with ambiguous genitalia
- Childhood parathyroid adenoma: a rare but important cause of nephrolithiasis
- A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review
- Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation
- Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene
- Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis
