Clinical profile and outcome of glycogen storage disease in Indian children

Poojari, Vishrutha; Shah, Ira; Shetty, Naman S; Mirani, Sonal; Tolani, Drishti

doi:10.1177/0049475520961935

Cited by 3 publications

(2 citation statements)

References 9 publications

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“…FAOD or mitochondrial disorders, and splenic nodules or masses can be detected in Gaucher disease(2,6). Renomegaly is another finding of GSD(4). Four of our GSD patients also had renal enlargement.CONCLUSIONGenerally, clinical findings of inborn errors of metabolism are similar to other etiologies.…”

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confidence: 74%

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Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit

Bulut

GÜRBÜZ

2022

Acibadem Univ Saglik Bilim Derg

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Purpose: Hepatomegaly, splenomegaly and hepatosplenomegaly in children can be due to infections, genetic liver diseases, hematological diseases or malignancies, autoimmune disorders, and also inborn errors of metabolism (IEM). Some IEM’s have specific treatments which should be started before irreversible complications occur. The aim of this study is to evaluate the etiological causes of visceromegaly in pediatric patients and assess the clinical findings of patients having an IEM. Materials and Methods: In this study, medical records of 93 patients who were referred to Pediatric Metabolism Unit in a tertiary care hospital with the suspicion of IEM-related hepatomegaly, splenomegaly or hepatosplenomegaly were reviewed retrospectively. Results: 45 patients had hepatomegaly, 18 had splenomegaly and 30 had hepatosplenomegaly. A total of 52 patients were diagnosed as having an IEM. 32 patients were lost to follow-up. The eventual diagnoses of 9 patients were not IEM. Conclusion: IEMs present from prenatal period to adulthood. Awareness of clinicians and diagnostic algorithms can prevent delayed diagnosis and enable early treatment for treatable IEMs or provide genetic counseling for the patient’s family.

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confidence: 74%

“…In a study evaluating 38 patients with GSD, all of the patients had hepatomegaly. Similarly, elevated liver function tests, hypoglycemia, hyperlipidemia, hyperuricemia were frequently observed (4). Other less often diagnoses were lipid storage diseases, fructose metabolism defects, and fatty acid oxidation defects (FAOD).…”

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confidence: 99%

Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit

Bulut

GÜRBÜZ

2022

Acibadem Univ Saglik Bilim Derg

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Clinical and biochemical characteristics of glycogen storage disease in Bangladeshi children from a tertiary care center

Begum,

Nahid,

Musabbir

et al. 2023

PNJB

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Background: Glycogen storage diseases (GSDs) are a group of metabolic diseases that results in aberrant glycogen metabolism due to genetic abnormalities of various enzymes. Glycogen degradation disorders primarily affect the liver, muscles, or both, which are the most seriously affected organs. Aim: This study aimed to determine the clinical and biochemical characteristics of GSD in children at Pediatric Gastroenterology and Nutrition Department, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh. Materials and Methods: This cross-sectional study was conducted over a period of 1 year and 6 months from October 2021 to March 2023. All children diagnosed with GSD on liver biopsy were enrolled in the study. Results: Among 437 children, 21 (4.8%) had a clinical diagnosis of GSD. The mean age at presentation to BSMMU was 2.3 ± 1.3 years. The male-to-female ratio was 1:1.1. Hepatomegaly was the primary cause of abdominal distension in all 21 patients (100%), whereas splenomegaly was found in nine (41.8%) patients. No patient had exhibited jaundice. One patient (4.7%) had experienced delayed development. The levels of serum glutamic-pyruvic transaminase and uric acid were both increased in 16 (76.1%) and 20 (95.2%) patients, respectively. Around 4.7% of cases had neutropenia, hypoglycemia, and nephromegaly. Eighteen (85.7%) patients had short stature. Cirrhotic changes were absent in liver biopsy though periportal fibrosis was detected in 4 (19%) of the individuals. Conclusions: Children with GSD commonly present with short stature, hypertriglyceridemia, and hyperuricemia. Histopathology of the liver remains the preferred diagnostic means in Bangladesh.

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Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand

Vanduangden,

Ittiwut,

Ittiwut

et al. 2024

World J Clin Pediatr

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BACKGROUND Thus far, genetic analysis of patients clinically diagnosed with glycogen storage diseases (GSDs) in Thailand has not been reported. AIM To evaluate the clinical and biochemical profiles, molecular analysis and long-term outcomes of Thai children diagnosed with hepatic GSD. METHODS Children aged < 18 years diagnosed with hepatic GSD and followed up at King Chulalongkorn Memorial Hospital were recruited. Whole-exome sequencing (WES) was performed to identify the causative gene variants. Medical records were assessed. RESULTS All eight children with histopathologically confirmed diagnosis were classified by WES into subtypes Ia (n = 1), III (n = 3), VI (n = 3), and IX (n = 1). A total number of 10 variants were identified including G6PC (n = 1), AGL (n = 4), PYGL (n = 5), and PHKA2 (n = 1). AGL had two novel variants. The clinical manifestations were hepatomegaly (n = 8), doll-like facies (n = 3), wasting (n = 2), and stunting (n = 5). All patients showed hypoglycemia, transaminitis, and dyslipidemia. The mainstay of treatment was cornstarch supplementation and high-protein and low-lactose-fructose diet. After a median follow-up time of 9.59 years, height turned to normal for age in 3/5 patients and none had malnutrition. Liver enzymes, blood sugar, and lipid profiles improved in all. CONCLUSION Hepatomegaly, transaminitis, and hypoglycemia are the hallmarks of GSD confirmed by liver histopathology. Molecular analysis can confirm the diagnosis or classify the subtype that might benefit from personalized treatment, prognosis, and long-term care.

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Clinical profile and outcome of glycogen storage disease in Indian children

Cited by 3 publications

References 9 publications

Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit

Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit

Clinical and biochemical characteristics of glycogen storage disease in Bangladeshi children from a tertiary care center

Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand

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