Liver transplantation for type I and type IV glycogen storage disease

Selby, Richard W.; Starzl, Thomas E.; Yunis, Eduardo J.; Todo, Satoru; Tzakis, Andreas G.; Brown, Barbara I.; Kendall, Ross S.

doi:10.1007/bf02072093

Cited by 47 publications

(34 citation statements)

References 26 publications

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“…It has been shown that liver transplantation into GSD-1a patients have corrected hypoglycemia and several other biochemical abnormalities associated with this disorder (10,11). This is consistent with our present findings indicating that expression of the G6Pase transgene in liver to 19% of that in G6Pase ϩ/ϩ mice corrected growth retardation, liver and kidney enlargement, hypoglycemia, hyperlipidemia, and hyperuricemia manifested by GSD-1a mice and greatly improved the survival of these mice.…”

Section: Discussionsupporting

confidence: 92%

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Correction of Glycogen Storage Disease Type 1a in a Mouse Model by Gene Therapy

Zingone¹,

Hiraiwa²,

Pan³

et al. 2000

Journal of Biological Chemistry

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Glycogen storage disease type 1a (GSD-1a), characterized by hypoglycemia, liver and kidney enlargement, growth retardation, hyperlipidemia, and hyperuricemia, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis. To evaluate the feasibility of gene replacement therapy for GSD-1a, we have infused adenoviral vector containing the murine G6Pase gene (Ad-mG6Pase) into G6Pase-deficient (G6Pase ؊/؊ ) mice that manifest symptoms characteristic of human GSD-1a. Whereas <15% of G6Pase ؊/؊ mice under glucose therapy survived weaning, a 100% survival rate was achieved when G6Pase ؊/؊ mice were infused with Ad-mG6Pase, 90% of which lived to 3 months of age. Hepatic G6Pase activity in Ad-mG6Pase-infused mice was restored to 19% of that in G6Pase ؉/؉ mice at 7-14 days post-infusion; the activity persisted for at least 70 days. Ad-mG6Pase infusion also greatly improved growth of G6Pase ؊/؊ mice and normalized plasma glucose, cholesterol, triglyceride, and uric acid profiles. Furthermore, liver and kidney enlargement was less pronounced with near-normal levels of glycogen depositions in both organs. Our data demonstrate that a single administration of a recombinant adenoviral vector can alleviate the pathological manifestations of GSD-1a in mice, suggesting that this disorder in humans can potentially be corrected by gene therapy.

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Section: Discussionsupporting

confidence: 92%

“…Kidney transplantation into GSD-1a patients, intended to correct renal failure (8,9), was unsuccessful in alleviating hypoglycemia or hyperlipidemia. On the other hand, liver transplantation into GSD-1a patients has improved growth and corrected hypoglycemia and other biochemical abnormalities associated with the G6Pase deficiency (10,11).…”

mentioning

confidence: 99%

Correction of Glycogen Storage Disease Type 1a in a Mouse Model by Gene Therapy

Zingone¹,

Hiraiwa²,

Pan³

et al. 2000

Journal of Biological Chemistry

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“…21,22 Presumed absence of renal complications was reported in one patient, in whom no kidney enlargement was present 9 years after transplant. 17 Two other patients had improved renal function, whereas a third had renal failure with focal glomerulosclerosis (typical for advanced GSD-Ia) following liver transplantation. 19 Increased GAPDH in affected GSD-Ia mice may be involved in non-enzymatic moonlighting activities such as induction of apoptosis and transcriptional regulation, thereby playing major role in pathogenesis.…”

Section: Discussionmentioning

confidence: 99%

“…Liver transplantation has been reported in 10 patients with GSD-Ia, and hypoglycemia and other abnormal blood chemistries resolved in all patients following liver transplant. [15][16][17][18][19][20] Four patients had increased growth velocity following transplantation. 15,16,19 Currently, it is unclear whether liver transplantation will prevent renal complications.…”

Section: Discussionmentioning

confidence: 99%

Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia

et al. 2006

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“…Первая успешная трансплантация печени при гли-когенозе IV типа была выполнена в 1984 году [44]. С тех пор еще 17 детям (16 мальчикам и одной девочке) была проведена трансплантация печени ввиду развития цирроза и печеночной недостаточ-ности в исходе болезни Андерсена [2,7,14,35,36,48].…”

Section: гликогеноз IV типаunclassified

Liver Transplantation in Children With Glycogen Storage Diseases: Risk Assessment and Necessity of This Procedure

Готье¹,

Цирульникова²,

Мнацаканян³

et al. 2014

Russian Journal of Transplantology and Artificial Organs

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1 ФГБУ «Федеральный научный центр трансплантологии и искусственных органов им. академика В.И. Шумакова» Минздрава России, г. Москва 2 ГБОУ ВПО «Первый МГМУ имени И.М. Сеченова», кафедра трансплантологии и искусственных органов, г. Москва Болезни накопления гликогена I, III, IV типа являются врожденными заболеваниями, которые обычно ведут к тяжелому поражению печени. Трансплантация печени является терапией выбора при данных патологиях. В то время как пересадка печени нивелирует первичный дефект фермента в печени, внепе-ченочные проявления гликогенозов порой осложняют посттрансплантационный период. В статье опи-саны данные англоязычной литературы, согласно которой 42 детям до 18 лет по поводу осложнений гликогенозов были проведены трансплантации печени (18 пациентам -в связи с гликогенозом Ia типа, шестерым -Ib, одному ребенку -III типа, 17 пациентам -по поводу гликогеноза IV типа). В работе представлено описание трансплантации печени ребенку по поводу гликогеноза Ia типа, проведен анализ посттрансплантационного периода жизни реципиента. Glycogen storage diseases I, III and IV types are congenital disorders, which are commonly associated with severe liver diseases. Liver transplantation has been proposed as a treatment of choise for these disorders. While liver transplantation corrects the primary hepatic enzyme defect, the extrahepatic manifestations of glycogenoses often complicate the posttransplant management. Upon review of the English-language literature, 42 children under 18 years old were discovered to have undergone liver transplantation for complications associated with glycogenoses (18 patients with Ia type, 6 -with Ib type, one patient -with III type, 17 -with IV type). This article represents the pediatric liver transplantation for complications associated with glycogenosis Ia type, analyzed posttransplant period in this recipient.

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Liver transplantation for type I and type IV glycogen storage disease

Cited by 47 publications

References 26 publications

Correction of Glycogen Storage Disease Type 1a in a Mouse Model by Gene Therapy

Correction of Glycogen Storage Disease Type 1a in a Mouse Model by Gene Therapy

Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia

Liver Transplantation in Children With Glycogen Storage Diseases: Risk Assessment and Necessity of This Procedure

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