glycogen storage disease type 1b

Definition: Glycogen storage disease type 1b is a rare metabolic disorder which affects the transport system of glucose-6-phosphatase metabolism. Autosomal recessive metabolic disease, caused by mutation in the glucose-6-phosphate transporter 1 gene (G6PT1, MIM.602671.0001) .

Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase.

Patients with glycogen storage disease type 1B present the clinical features of glycogen storage disease type 1A.

In addition, they are susceptible to recurrent bacterial infection and have recurrent oral ulcers and occasionally Crohn’s-like disease.

There features are due to immune dysfunction caused by a combination of neutropenia and impaired phagocytic functions.

Synopsis

 hepatomegaly
 failure to thrive
 renal dysfunction
 recurrent infections

 Short stature
 Delayed puberty
 ’Doll-like’ facies
 Lipemia retinalis

 Hypertension
 Protuberant abdomen
 Hepatomegaly
 Liver adenomas
 Hepatocellular carcinoma
 Pancreatitis
 chronic inflammatory bowel disease (IBD) (1779622)

• Crohn’s-like disease (Crohn-like enteritis) (9007171, 11321392, 12373579)
• inflammatory bowel disease-like colitis (11383585)

 immune dysfunction
 impaired phagocytic functions.
 intestinal mucosal ulcerations
 oral complications (2304744, 7776266, 7617501, 9106875)

• oral ulcers
• rapidly progressive periodontal disease
• recurrent mucosal ulceration

 hypoglycemia (11321392)
 cerebral abscesses (1467626)
 peripheral and central giant cell granuloma (19590614)
 Reduced creatinine clearance
 Focal segmental glomerulosclerosis
 Renal stones
 Renal enlargement
 osteoporosis
 gouty arthritis
 xanthoma
 severe neutropenia (8447561)
 impaired neutrophil migration
 abnormal leukocyte function
 T1 transport protein (Glucose-6-phosphate translocase) defect
 Hyperlipidemia
 Hyperuricemia
 Lactic acidosis
 Hypoglycemia
 Proteinuria
 Liver transaminases normal to slightly increased
 Recurrent bacterial infections
 hypoglycemic seizures
 recurrent infections
 massive hepatomegaly
 recurrent hypoglycemia
 hyperuricemia
 hypertriglyceridemia
 neutropenia
 fasting lactacidemia
 acute myelogenous leukemia (6590826)
 malignant hyperthermia (6590826)
 Crohn-like enteritis or colitis (12373579, 18172743)
 myasthenia gravis (18437526)
 neutrophil dysfunction (1985051)

References in pathology

 Possible diagnosis of type 1b glycogen storage disease using frozen liver biopsies. Maire I, Mathieu M. J Inherit Metab Dis. 1990;13(3):250-1. PMID: 2172642

 Glycogen storage disease type IB. Buchino JJ, Brown BI, Volk DM. Arch Pathol Lab Med. 1983 Jun;107(6):283-5. PMID: 6303265

References

 Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib. Davis MK, Rufo PA, Polyak SF, Weinstein DA. J Inherit Metab Dis. 2008 Jan 5. PMID: 18172743

 Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? Melis D, Balivo F, Della Casa R, Romano A, Taurisano R, Capaldo B, Riccardi G, Monsurrò MR, Parenti G, Andria G. J Inherit Metab Dis. 2008 Apr 21. PMID: 18437526

 Association of glycogen storage disease 1b and Crohn disease: results of a North American survey. Dieckgraefe BK, Korzenik JR, Husain A, Dieruf L. Eur J Pediatr. 2002 Oct;161 Suppl 1:S88-92. PMID: 12373579

 Glycogen storage disease lb and Crohn colitis in a young woman. Doko M, Zjacic-Rotkvic V, Zovak M, Kopljar M, Glavan E, Radacic-Aumiler M. Endocrine. 2001 Nov;16(2):69-71. PMID: 11887936

 Immune deficiency in glycogen storage disease type 1B. Garty BZ, Douglas SD, Danon YL. Isr J Med Sci. 1996 Dec;32(12):1276-81. PMID: 9007171

 Neutrophil dysfunction in glycogen storage disease Ib: association with Crohn’s-like colitis. Couper R, Kapelushnik J, Griffiths AM. Gastroenterology. 1991 Feb;100(2):549-54. PMID: 1985051

 Chronic inflammatory bowel disease in glycogen storage disease type 1B. Sanderson IR, Bisset WM, Milla PJ, Leonard JV. J Inherit Metab Dis. 1991;14(5):771-6. PMID: 1779622

 Inflammatory bowel disease in glycogen storage disease type Ib. Roe TF, Thomas DW, Gilsanz V, Isaacs H Jr, Atkinson JB. J Pediatr. 1986 Jul;109(1):55-9. PMID: 3459848

 Glycogen storage disease type 1b: genetic disorder involving the transport system of intracellular membrane. Narisawa K, Igarashi Y, Tada K. Enzyme. 1987;38(1-4):177-83. PMID: 2831040

 Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b. Narisawa K, Ishizawa S, Okumura H, Tada K, Kuzuya T. J Inherit Metab Dis. 1986;9(3):297-300. PMID: 3025513

 Acute myelogenous leukemia and malignant hyperthermia in a patient with type 1b glycogen storage disease. Simmons PS, Smithson WA, Gronert GA, Haymond MW. J Pediatr. 1984 Sep;105(3):428-31. PMID: 6590826