Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance

Paolella, Gaetana; Pisano, Pasquale; Albano, Raffaele; Cannaviello, Lucio; Mauro, Carolina; Esposito, Gabriella; Vajro, Pietro

doi:10.1186/1824-7288-38-64

Cited by 11 publications

(7 citation statements)

References 21 publications

(19 reference statements)

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“…60 One must keep an open mind as elevated aminotransferases, often due to muscle rather than hepatocyte release, with elevated creatinine phosphokinase, rapid weight gain or microvesicular steatosis on liver biopsy may be the presenting problem. 27,61 Similar findings may be observed in limb-girdle muscular dystrophy. 62 In patients with spinal muscular atrophy, deficiencies in the survival of motor neurone (SMN) protein lead to defective motor neurones.…”

Section: Myopathic Disorderssupporting

confidence: 80%

Paediatric fatty liver disease (PeFLD): All is not NAFLD – Pathophysiological insights and approach to management

Hegarty

Deheragoda

Fitzpatrick

et al. 2018

Journal of Hepatology

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The recognition of a pattern of steatotic liver injury where histology mimicked alcoholic liver disease, but alcohol consumption was denied, led to the identification of non-alcoholic fatty liver disease (NAFLD). Non-alcoholic fatty liver disease has since become the most common chronic liver disease in adults owing to the global epidemic of obesity. However, in paediatrics, the term NAFLD seems incongruous: alcohol consumption is largely not a factor and inherited metabolic disorders can mimic or co-exist with a diagnosis of NAFLD. The term paediatric fatty liver disease may be more appropriate. In this article, we summarise the known causes of steatosis in children according to their typical, clinical presentation: i) acute liver failure; ii) neonatal or infantile jaundice; iii) hepatomegaly, splenomegaly or hepatosplenomegaly; iv) developmental delay/psychomotor retardation and perhaps most commonly; v) the asymptomatic child with incidental discovery of abnormal liver enzymes. We offer this model as a means to provide pathophysiological insights and an approach to management of the ever more complex subject of fatty liver.

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Section: Myopathic Disorderssupporting

confidence: 80%

Paediatric fatty liver disease (PeFLD): All is not NAFLD – Pathophysiological insights and approach to management

Hegarty

Deheragoda

Fitzpatrick

et al. 2018

Journal of Hepatology

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“…3,12 These common mutations take place in coding regions of the gene and produce harmful modifications in the aldolase B enzyme that result in a truncated polypeptide, major changes in folding, disruption of the substrate-binding site or impaired ability to conform tetramers. 13–15 It is interesting to note, however, that HFI has also been reported in a patient heterozygous for the pY204X (c.612T>A) mutation, 16 suggesting that HFI may behave as a phenotype with codominance or incomplete penetrance. Exon 9 is the largest of the eight exons of ALDOB, it consists of 1327 base pairs and a 3′ untranslated region (UTR).…”

Section: Discussionmentioning

confidence: 99%

Fructosuria and recurrent hypoglycemia in a patient with a novel c.1693T>A variant in the 3′ untranslated region of the aldolase B gene

Morales-Álvarez

Ricardo-Silgado

Lemus

et al. 2019

SAGE Open Medical Case Reports

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Hereditary fructose intolerance, caused by mutations in the ALDOB gene, is an unusual cause of hypoglycemia. ALDOB encodes the enzyme aldolase B, responsible for the hydrolysis of fructose 1-phosphate in the liver. Here, we report the case of a 33-year-old female patient who consulted due to repetitive episodes of weakness, dizziness and headache after food ingestion. An ambulatory 72-h continuous glucose monitoring revealed multiple short hypoglycemic episodes over the day. After biochemical exclusion of other endocrine causes of hypoglycemia, hereditary fructose intolerance seemed a plausible diagnosis. Repeated measurements of urinary fructose revealed pathologic fructosuria, but genetic testing for the three most common mutations in ALDOB resulted negative. We decided to perform complete Sanger sequencing of the ALDOB gene and encountered a variant consisting of a T>A substitution in position 1963 of the ALDOB transcript (c.1693T>A). This position is located within the 3′ untranslated region of exon 9, 515 nucleotides downstream the stop codon. After complete withdrawal of dietary fructose and sucrose, the patient presented no new hypoglycemic episodes.

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“…Unfortunately, sometimes children may undergo liver biopsies without a prior exclusion of the muscular causes of fatty liver revealed by high blood levels of muscular enzymes. In these cases a misdiagnosis of NAFLD is possible [55,56].…”

Section: Myopathiesmentioning

confidence: 99%

Pediatric Fatty Liver and Obesity: Not Always Just a Matter of Non-Alcoholic Fatty Liver Disease

et al. 2018

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Obesity-related non-alcoholic fatty liver disease (NAFLD) represents the most common cause of pediatric liver disease due to overweight/obesity large-scale epidemics. In clinical practice, diagnosis is usually based on clinical features, blood tests, and liver imaging. Here, we underline the need to make a correct differential diagnosis for a number of genetic, metabolic, gastrointestinal, nutritional, endocrine, muscular, and systemic disorders, and for iatrogenic/viral/autoimmune hepatitis as well. This is all the more important for patients who are not in the NAFLD classical age range and for those for whom a satisfactory response of liver test abnormalities to weight loss after dietary counseling and physical activity measures cannot be obtained or verified due to poor compliance. A correct diagnosis may be life-saving, as some of these conditions which appear similar to NAFLD have a specific therapy. In this study, the characteristics of the main conditions which require consideration are summarized, and a practical diagnostic algorithm is discussed.

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Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance

Cited by 11 publications

References 21 publications

Paediatric fatty liver disease (PeFLD): All is not NAFLD – Pathophysiological insights and approach to management

Paediatric fatty liver disease (PeFLD): All is not NAFLD – Pathophysiological insights and approach to management

Fructosuria and recurrent hypoglycemia in a patient with a novel c.1693T>A variant in the 3′ untranslated region of the aldolase B gene

Pediatric Fatty Liver and Obesity: Not Always Just a Matter of Non-Alcoholic Fatty Liver Disease

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