Brain damage in glycogen storage disease type I

Melis, Daniela; Parenti, Giancarlo; Casa, Roberto Della; Sibilio, Michelina; Romano, Alfonso; Salle, Francesco Di; Elefante, R.; Mansi, G.; Santoro, Lucio; Perretti, A.; Paludetto, R; Sequino, Luigi; Andria, Generoso

doi:10.1016/j.jpeds.2004.02.033

Cited by 39 publications

(21 citation statements)

References 11 publications

(2 reference statements)

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“…This is a common finding in many metabolic diseases that are characterized in general by complex phenotypes, involving several organs and systems, such as the central nervous system [6,7], the respiratory tract [8-11], the gastro-intestinal tract and liver [12-14], the muscolo-skeletal system [15-18], and the immune system. Such a wide variability and involvement of different systems may be confusing in the diagnostic approach to patients with metabolic disorders.…”

Section: Discussionmentioning

confidence: 99%

A case of galactosemia misdiagnosed as cow’s milk intolerance

et al. 2012

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Section: Discussionmentioning

confidence: 99%

A case of galactosemia misdiagnosed as cow’s milk intolerance

et al. 2012

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“…Indeed H6PDH is integrated in the pentose phosphate pathway to generate reducing equivalents in the form of NADPH, crucial for reductive biosynthesis within cells and necessary for provision of ribose-5-phosphate for synthesis of nucleotides and nucleic acids. However, the brain is not a prominent target in glycogen storage disease type 1 with damage correlating merely with hypoglycaemia, the major peripheral manifestation [170]. Clearly there is much to discover about the determinants driving 11β-reductase in brain cells.…”

Section: Reaction Direction Redox Potential and Hexose-6-phosphate Dmentioning

confidence: 99%

11β-Hydroxysteroid dehydrogenases and the brain: From zero to hero, a decade of progress

Wyrwoll

Holmes

Seckl

2011

Frontiers in Neuroendocrinology

206

187

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Graphical abstractExpression and function of 11β-hydroxysteroid dehydrogenase (11β-HSD) type 1 and 2. 11β-HSD1 is widely expressed throughout the adult CNS and is key to HPA axis function and cognitive decline during ageing. Conversely, the major central effects of 11β-HSD2 are seen in development, as expression of 11β-HSD2 is high in fetal tissues including the neonate brain and placenta. Loss of 11β-HSD2 from the fetus and fetally-derived tissues results in a life-long phenotype of anxiety, consistent with developmental programming.

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“…The incidence of BAEP changes correlated with the frequency of hypoglycemia episodes. 10 Exogenous potentials (SEP, VEP, BAEP) of our patients performed at the age of 4 years remain normal, which gives hope for the proper functioning of sensory organs in patients who are metabolically monitored and who undergo strict dietary and pharmacological treatment.…”

Section: Discussionmentioning

confidence: 77%

Epilepsy and Electrophysiological Findings in Polish Twins With Glycogenosis Type IIIb

2013

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Glycogen storage diseases are rare genetic disorders, mostly autosomal recessively inherited. Abnormal accumulation is because of the lack of one of the enzymes involved in glycogen metabolism. Neurological manifestation of the diseases involves muscle weakness and hypoglycemia-induced seizures. In this article, we present a history of twin sisters with unusual coincidence of glycogenosis type IIIb and epilepsy. Hypoglycemic background of seizures and organic changes of the central nervous system were excluded. Since the introduction of antiepileptic treatment, the patients have been seizure-free; however, paroxysmal electroencephalographic (EEG) changes have persisted. A high-protein and low-carbohydrate diet has protected them against hypoglycemia.

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Brain damage in glycogen storage disease type I

Cited by 39 publications

References 11 publications

A case of galactosemia misdiagnosed as cow’s milk intolerance

A case of galactosemia misdiagnosed as cow’s milk intolerance

11β-Hydroxysteroid dehydrogenases and the brain: From zero to hero, a decade of progress

Epilepsy and Electrophysiological Findings in Polish Twins With Glycogenosis Type IIIb

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