A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients
-
Amel Ben Chehida
,
Sana Ben Messaoud
,
Hajer Mansouri
Abstract
Background
Glycogen storage disease type III (GSDIII), due to a deficiency of glycogen debrancher enzyme (GDE), is particularly frequent in Tunisia. Phenotypic particularities of Tunisian patients remain unknown. Our aim was to study complications of GSDIII in a Tunisian population and to explore factors interfering with its course.
Methods
A retrospective longitudinal study was conducted over 30 years (1986–2016) in the referral metabolic center in Tunisia.
Results
Fifty GSDIII patients (26 boys), followed for an average 6.75 years, were enrolled. At the last evaluation, the median age was 9.87 years and 24% of patients reached adulthood. Short stature persisted in eight patients and obesity in 19 patients. Lower frequency of hypertriglyceridemia (HTG) was associated with older patients (p<0.0001), higher protein diet (p=0.068) and lower caloric intake (p=0.025). Hepatic complications were rare. Cardiac involvement (CI) was frequent (91%) and occurred early at a median age of 2.6 years. Severe cardiomyopathy (50%) was related to lower doses of uncooked cornstarch (p=0.02). Neuromuscular involvement (NMI) was constant, leading to a functional discomfort in 64% of cases and was disabling in 34% of cases. Severe forms were related to lower caloric (p=0.005) and protein intake (p<0.015).
Conclusions
A low caloric, protein and uncooked cornstarch intake is associated with a more severe outcome in GSDIII Tunisian patients. Neuromuscular and CIs were particularly precocious and severe, even in childhood. Genetic and epigenetic factors deserve to be explored.
Acknowledgments
We express our deep gratitude to Dr. Irène Maire (Service de biochimie pédiatrique, Hôpital Debrousse, Lyon, France), Dr. Christiane Baussan (Laboratoire de biochimie, CHU de Bicêtre, Paris, France), Dr. François Petit (Laboratoire de Biochimie, Hôpital Antoine Beclère, France), Drs. Moez Gribaa and Amira Mili (Laboratoire de Cytogénétique, de Génétique Moléculaire et Biologie de la Reproduction Humaine, Hôpital Frahat Hached Sousse, Tunisie) for their valuable contribution to the enzymatic and genetic diagnosis of our patients.
Author contributions: Amel Ben Chehida and Sana Ben Messaoud did the study design, data interpretation and wrote the manuscript. Sana Ben Messaoud, Hajer Mansouri and Amel Ben Chehida collected and interpreted the medical data from records and from dietary records. They recalled the patients for examination and complementary investigations in the case of missing data. Hajer Mansouri and Kaouthar Hakim did the electrocardiogram and the cardiological evaluation of the patients. Kaouthar Hakim did further echocardiography when needed. Sana Ben Messaoud and Nadia Ben Ali did the neurological evaluation of the patients. Nadia Ben Ali did the electromyogram and nerve conduction and interpreted the results. Zeineb Ben Ameur and Yosra Sassi were the dieticians who did dietary assessment. Sonia Abdelhak and Naziha Kaabachi were involved, respectively, in genotyping and biochemical surveillance. Amel Ben Chehida, Neji Tebib, Rim Ben Abdelaziz, Hela Boudabous, Mohamed Slim Abdelmoula and Hatem Azzouz: did the global clinical evaluation (growth, hepatic, endocrine complications) and data analysis. 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.
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©2018 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Original Articles
- Intracranial pathologies associated with central diabetes insipidus in infants
- Omentin-1 and NAMPT serum concentrations are higher and CK-18 levels are lower in children and adolescents with type 1 diabetes when compared to healthy age, sex and BMI matched controls
- Evaluation of anthropometric parameters of central obesity in Pakistani children aged 5–12 years, using receiver operating characteristic (ROC) analysis
- A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients
- Untreated congenital hypothyroidism due to loss to follow-up: developing preventive strategies through quality improvement
- The effect of 17 years of increased salt iodization on the prevalence and nature of goiter in Croatian schoolchildren
- Is there an association between thyrotropin levels within the normal range and birth growth parameters in full-term newborns?
- Etiology of short stature in Indian children and an assessment of the growth hormone-insulin-like growth factor axis in children with idiopathic short stature
- Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy
- A personal series of 100 children operated for Cushing’s disease (CD): optimizing minimally invasive diagnosis and transnasal surgery to achieve nearly 100% remission including reoperations
- 12-Week aerobic exercise and nutritional program minimized the presence of the 64Arg allele on insulin resistance
- Letter to the Editor
- Successful treatment of life-threatening severe metabolic acidosis by continuous veno-venous hemodialysis in a child with diabetic ketoacidosis
- Case Reports
- Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene
- To diet or not to diet in neonatal diabetes responding to sulfonylurea treatment
- Van Wyk-Grumbach syndrome with hemangioma in an infant
- Maternal iodine excess: an uncommon cause of acquired neonatal hypothyroidism
Articles in the same Issue
- Frontmatter
- Original Articles
- Intracranial pathologies associated with central diabetes insipidus in infants
- Omentin-1 and NAMPT serum concentrations are higher and CK-18 levels are lower in children and adolescents with type 1 diabetes when compared to healthy age, sex and BMI matched controls
- Evaluation of anthropometric parameters of central obesity in Pakistani children aged 5–12 years, using receiver operating characteristic (ROC) analysis
- A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients
- Untreated congenital hypothyroidism due to loss to follow-up: developing preventive strategies through quality improvement
- The effect of 17 years of increased salt iodization on the prevalence and nature of goiter in Croatian schoolchildren
- Is there an association between thyrotropin levels within the normal range and birth growth parameters in full-term newborns?
- Etiology of short stature in Indian children and an assessment of the growth hormone-insulin-like growth factor axis in children with idiopathic short stature
- Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy
- A personal series of 100 children operated for Cushing’s disease (CD): optimizing minimally invasive diagnosis and transnasal surgery to achieve nearly 100% remission including reoperations
- 12-Week aerobic exercise and nutritional program minimized the presence of the 64Arg allele on insulin resistance
- Letter to the Editor
- Successful treatment of life-threatening severe metabolic acidosis by continuous veno-venous hemodialysis in a child with diabetic ketoacidosis
- Case Reports
- Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene
- To diet or not to diet in neonatal diabetes responding to sulfonylurea treatment
- Van Wyk-Grumbach syndrome with hemangioma in an infant
- Maternal iodine excess: an uncommon cause of acquired neonatal hypothyroidism
