ArticleJournal of inherited metabolic disease2003
Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX).
Article in Journal of inherited metabolic disease, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Pooled it
- Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.Journal of inherited metabolic disease · 2026Observational
- Dietary and Therapeutic Management of Glycogen Storage Disease Type IX: Analysis of a Systematic Review.Children (Basel, Switzerland) · 2026Review
- Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.Orphanet journal of rare diseases · 2025Article
- Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.Reviews in endocrine & metabolic disorders · 2024Review
- Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.Journal of medical case reports · 2024Article
- Glycogen storage diseases: An update.World journal of gastroenterology · 2023Review
- [Splicing abnormalities caused by a novel mutation in theZhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2023Article
- Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.Orphanet journal of rare diseases · 2022Review
- Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.Medicine · 2019Review
- Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children.GE Portuguese journal of gastroenterology · 2019Article
- Glycogen storage disease presenting as Cushing syndrome.JIMD reports · 2019Article
- Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- [Glycogenosis type IX caused by a novel mutation of phosphorylase kinase α subunit: a family analysis].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2017Article
- A new variant inMolecular genetics and metabolism reports · 2017Article
- Investigation and management of the hepatic glycogen storage diseases.Translational pediatrics · 2015Review
- Aggressive therapy improves cirrhosis in glycogen storage disease type IX.Molecular genetics and metabolism · 2013Article
- Cases in pediatric gastroenterology from The Children's Hospital of Philadelphia: a 2-year-old boy with diarrhea, failure to thrive, and hepatomegaly.Medscape journal of medicine · 2009Article
- Glycogen storage diseases: new perspectives.World journal of gastroenterology · 2007Review
- Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.Journal of inherited metabolic disease · 2005Article
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Growth retardation is one of the clinical characteristics of glycogen storage disease (GSD) type IX. Initial growth retardation has been described in a few case reports, followed by a complete catch-up in growth. This study aimed to determine the growth pattern of patients with GSD IX. Growth charts of 51 male Dutch patients with GSD IX (age 0-33 years, median follow-up time 8.3 years (range 0-30.5 years)) were studied retrospectively and compared with Dutch standard growth charts. Patients had a normal height at birth, significant growth retardation between the ages of 2 and 10 years (mean z-score -1.96), delayed growth spurt in puberty and catch-up towards quite normal final height (mean z-score -0.55). We conclude that GSD IX patients have a specific growth pattern characterized by initial growth retardation, a late growth spurt and complete catch-up in final height. Intervention for growth retardation is therefore in general not warranted. It is speculated that mild hypoglycaemia related to the disorder may cause endocrine changes. Because the glucose need per kg bodyweight decreases with age, the enzyme defect becomes less important with ageing and the effect on growth diminishes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.