Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology

Ichimoto, Keiko; Fujisawa, Tomoo; Shimura, Motoko; Fushimi, Takuya; Tajika, Makiko; Matsunaga, Ayako; Ogawa-Tominaga, Minako; Akiyama, Nana; Naruke, Yuki; Hara, Hiroshi; Fukuda, Tokiko; Sugie, Hideo; Inui, Ayano; Murayama, Kei

doi:10.1016/j.ymgmr.2020.100601

Cited by 4 publications

(4 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, no clear histological differences were demonstrated that could further explain the differences in clinical presentation between the patients. Interestingly, the recently described atypical histological characteristics with resorption of most inclusions of the PAS‐D staining 21 could be seen in the liver biopsy of patient 5, although typical histological features were present in the same biopsy (Figure 2).…”

Section: Resultsmentioning

confidence: 72%

See 1 more Smart Citation

The potential of dietary treatment in patients with glycogen storage disease type IV

Derks

Peeks

Boer

et al. 2020

J of Inher Metab Disea

View full text Add to dashboard Cite

There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV. In light of the success of dietary treatment for the other hepatic forms of GSD, we have initiated this observational study to assess the outcomes of medical diets, which limit the accumulation of glycogen. Clinical, dietary, laboratory, and imaging data for 15 GSD IV patients from three centres are presented. Medical diets may have the potential to delay or prevent liver transplantation, improve growth and normalize serum aminotransferases. Individual care plans aim to avoid both hyperglycaemia, hypoglycaemia and/or hyperketosis, to minimize glycogen accumulation and catabolism, respectively. Multidisciplinary monitoring includes balancing between traditional markers of metabolic control (ie, growth, liver size, serum aminotransferases, glucose homeostasis, lactate, and ketones), liver function (ie, synthesis, bile flow and detoxification of protein), and symptoms and signs of portal hypertension.

show abstract

Section: Resultsmentioning

confidence: 72%

“…We evaluated the presence and the amount of eosinophilic cytoplasmic inclusions in hepatocytes with the PAS staining. The PAS‐D staining was added to identify GSD IV with atypical histological features 21 …”

Section: Methodsmentioning

confidence: 99%

The potential of dietary treatment in patients with glycogen storage disease type IV

Derks

Peeks

Boer

et al. 2020

J of Inher Metab Disea

View full text Add to dashboard Cite

show abstract

“…The second major conclusion of the current study is that variation in disease severity among patients with GSD IV is better characterized as a continuum rather than discrete categories. Under the subtype-based classification system, patients with predominantly hepatic manifestations are classified into either the more severe “classic hepatic” subtype–typically defined by the need for LT by 5 years of age–or the milder “non-progressive” hepatic subtype ( Iijima et al, 2018 ; Magoulas and El-Hattab, 2019 ; Ichimoto et al, 2020 ). Careful analysis of hepatic phenotypes in the current study identified several patients whose outcomes appeared to be intermediate between these subtypes (scored as H2).…”

Section: Discussionmentioning

confidence: 99%

“…Under the established subtype-based classification system, patients are categorized into either hepatic or neuromuscular subtypes that are then further sub-divided based on clinical severity and the rate of disease progression. Hepatic subtypes include the 1) severe “classic hepatic” form, which is typically defined to include patients with progressive liver dysfunction leading to death or a need for liver transplant (LT) within the first 5 years of life ( Magoulas et al, 2012 ; Magoulas and El-Hattab, 2019 ; Sreekantam et al, 2020 ); and 2) the milder, “non-progressive hepatic” subtype, which is less clearly defined and includes patients with stable hepatopathy that does not progress to severe liver failure requiring transplantation by age 5 years ( McConkie-Rosell et al, 1996 ; Iijima et al, 2018 ; Ichimoto et al, 2020 ). Neuromuscular subtypes include the 1) “perinatal neuromuscular” and 2) “congenital neuromuscular” subtypes, which have been recognized as distinct from one another by some authors ( Bruno et al, 2004 ; Akman et al, 2006 ; Magoulas and El-Hattab, 2019 ) and combined into a single group by others ( Maruyama et al, 2004 ; Iijima et al, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

et al. 2022

View full text Add to dashboard Cite

Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent to which this subtype-based classification system accurately captures the landscape of phenotypic variation among GSD IV patients has not been systematically assessed.Methods: This study synthesized clinical data from all eligible cases of GSD IV in the published literature to evaluate whether this disorder is better conceptualized as discrete subtypes or a clinical continuum. A novel phenotypic scoring approach was applied to characterize the extent of hepatic, neuromuscular, and cardiac involvement in each eligible patient.Results: 146 patients met all inclusion criteria. The majority (61%) of those with sufficient data to be scored exhibited phenotypes that were not fully consistent with any of the established subtypes. These included patients who exhibited combined hepatic-neuromuscular involvement; patients whose phenotypes were intermediate between the established hepatic or neuromuscular subtypes; and patients who presented with predominantly cardiac disease.Conclusion: The application of this novel phenotypic scoring approach showed that–in contrast to the traditional subtype-based view–GSD IV may be better conceptualized as a multidimensional clinical continuum, whereby hepatic, neuromuscular, and cardiac involvement occur to varying degrees in different patients.

show abstract

Liver-Based Inherited Metabolic Disorders

Vara

2021

Textbook of Pediatric Gastroenterology, Hepatology and Nutrition

View full text Add to dashboard Cite

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology

Cited by 4 publications

References 15 publications

The potential of dietary treatment in patients with glycogen storage disease type IV

The potential of dietary treatment in patients with glycogen storage disease type IV

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

Liver-Based Inherited Metabolic Disorders

Contact Info

Product

Resources

About