Literature DB >> 10586187

Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.

D Babovic-Vuksanovic1, M C Patterson, W F Schwenk, J F O'Brien, J Vockley, H H Freeze, D P Mehta, V V Michels.   

Abstract

We describe clinical, biochemical, and molecular findings in a 2(1/2)-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.

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Year:  1999        PMID： 10586187     DOI： 10.1016/s0022-3476(99)70103-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  20 in total

Review 1.  New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system.

Authors:  Bradley S Miller; Hudson H Freeze
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

2.  A six-month-old infant with liver steatosis.

Authors:  Michael O Stormon; Ernest Cutz; Katryn Furuya; Melanie Bedford; Laura Yerkes; Dean R Tolan; Annette Feigenbaum
Journal:  J Pediatr       Date:  2004-02       Impact factor: 4.406

Review 3.  Congenital disorders of glycosylation.

Authors:  Irene J Chang; Miao He; Christina T Lam
Journal:  Ann Transl Med       Date:  2018-12

4.  Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Authors:  S Kim; V Westphal; G Srikrishna; D P Mehta; S Peterson; J Filiano; P S Karnes; M C Patterson; H H Freeze
Journal:  J Clin Invest       Date:  2000-01       Impact factor: 14.808

5.  Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

Authors:  V Westphal; S Murch; S Kim; G Srikrishna; B Winchester; R Day; H H Freeze
Journal:  Am J Pathol       Date:  2000-12       Impact factor: 4.307

6.  Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).

Authors:  H Böhles; A A Sewell; B Gebhardt; A Reinecke-Lüthge; G Klöppel; T Marquardt
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

Review 7.  Genetic characteristics of patients with congenital hyperinsulinism.

Authors:  Mary Ellen Vajravelu; Diva D De León
Journal:  Curr Opin Pediatr       Date:  2018-08       Impact factor: 2.856

Review 8.  Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Authors:  Anna Čechová; Ruqaiah Altassan; Delphine Borgel; Arnaud Bruneel; Joana Correia; Muriel Girard; Annie Harroche; Beata Kiec-Wilk; Klaus Mohnike; Tiffany Pascreau; Łukasz Pawliński; Silvia Radenkovic; Sandrine Vuillaumier-Barrot; Luis Aldamiz-Echevarria; Maria Luz Couce; Esmeralda G Martins; Dulce Quelhas; Eva Morava; Pascale de Lonlay; Peter Witters; Tomáš Honzík
Journal:  J Inherit Metab Dis       Date:  2020-04-21       Impact factor: 4.982

9.  Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

Authors:  B Shanti; M Silink; K Bhattacharya; N J Howard; K Carpenter; M Fietz; P Clayton; J Christodoulou
Journal:  J Inherit Metab Dis       Date:  2009-04-27       Impact factor: 4.982

10.  Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms.

Authors:  D Penel-Capelle; D Dobbelaere; J Jaeken; A Klein; M Cartigny; J Weill
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
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