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glycogen storage disease type 1b

MIM.232220

Tuesday 13 October 2009

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, MonsurrĂ² 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#