A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3mutations

被引：0

作者：

Siddharth Banka

William G Newman

机构：

[1] University of Manchester,Manchester Centre for Genomic Medicine, Institute of Human Development

[2] Central Manchester University Hospitals NHS Foundation Trust,Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, St. Mary’s Hospital

来源：

Orphanet Journal of Rare Diseases | / 8卷

关键词：

Ubiquitously expressed glucose-6-phosphatase enzyme; G-6-Pase; G-6-Pase 3; G6PC3; Severe congenital neutropenia type 4; Neutropenia; Dursun syndrome; Prominent superficial venous pattern; Congenital cardiac defects; Uro-genital anomalies;

D O I：

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学科分类号：

摘要：

The G6PC3 gene encodes the ubiquitously expressed glucose-6-phosphatase enzyme (G-6-Pase β or G-6-Pase 3 or G6PC3). Bi-allelic G6PC3 mutations cause a multi-system autosomal recessive disorder of G6PC3 deficiency (also called severe congenital neutropenia type 4, MIM 612541). To date, at least 57 patients with G6PC3 deficiency have been described in the literature.

引用

共 50 条

[21] IMPAIRED PLATELET-FUNCTION IN GLUCOSE-6-PHOSPHATASE DEFICIENCY
CORBY, DG
PUTNAM, CW
GREENE, HL
JOURNAL OF PEDIATRICS, 1974, 85 (01): : 71 - 76
[22] Cardiac morphology and collagen deposition in a Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) knockout mouse model
Lister, Rolanda Lister L.
Lubkemann, Austin W.
O'Brien, Richard M.
Baldwin, Scott H.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2019, 220 (01) : S590 - S590
[23] DIETARY TREATMENT OF HYPERLIPEMIA IN GLUCOSE-6-PHOSPHATASE DEFICIENCY GLYCOGENOSIS
SUMMER, GK
CUTTINO, JT
FEDERATION PROCEEDINGS, 1972, 31 (02) : A718 - &
[24] COMPLEX CARBOHYDRATES IN THE DIETARY-MANAGEMENT OF PATIENTS WITH GLYCOGENOSIS CAUSED BY GLUCOSE-6-PHOSPHATASE DEFICIENCY
SMIT, GPA
VERVERS, MT
BELDEROK, B
VANRIJN, M
BERGER, R
FERNANDES, J
AMERICAN JOURNAL OF CLINICAL NUTRITION, 1988, 48 (01): : 95 - 97
[25] PARTIAL DEFICIENCY OF HEPATIC GLUCOSE-6-PHOSPHATASE IN AN ADULT PATIENT
STAMM, WE
WEBB, DI
ARCHIVES OF INTERNAL MEDICINE, 1975, 135 (08) : 1107 - 1109
[26] GLUCOSE-6-PHOSPHATASE DEFICIENCY CAUSED BY RADIATION-INDUCED ALLELES AT ALBINO LOCUS IN MOUSE
ERICKSON, RP
GLUECKSO.S
CORI, CF
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1968, 59 (02) : 437 - &
[27] GLYCOGEN STORAGE-DISEASE DUE TO GLUCOSE-6-PHOSPHATASE (G6PASE) DEFICIENCY - TREATMENT WITH CLOFIBRATE
GREENE, HL
TAUNTON, D
STIFEL, FB
HERMAN, RH
PEDIATRIC RESEARCH, 1972, 6 (04) : 398 - &
[28] Extended Molecular and Clinical Phenotype of Human G6PC3 Deficiency
Boztug, Kaan
Rosenberg, Philip S.
Boehm, Marie
Moulton, Thomas
Curtin, Julie
Rezaei, Nima
Corns, John
Innis, Jeffrey
Avci, Zekai
Tran, Hung Chi
Pellier, Isabelle
Gatti, Simona
Fruge, Rachel
Parvaneh, Nima
Darbyshire, Phil
Buchanan, George R.
Alter, Blanche P.
Boxer, Larry
Donadieu, Jean
Welte, Karl
Klein, Christoph
BLOOD, 2010, 116 (21) : 637 - 637
[29] INSULIN INHIBITS HEPATIC GLUCOSE-6-PHOSPHATASE (G6PASE) INVITRO
BARRETT, EJ
LIU, ZQ
DIABETES, 1993, 42 : A225 - A225
[30] Hepatocellular phenotypic changes reflecting acquired deficiency of glucose-6-phosphatase (G-6-P) in human HCC.
Callea, F
Villanacci, V
Canini, S
Lorini, GP
HEPATOLOGY, 1996, 23 (01) : P104 - P104

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