Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene. The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. Using standard diagnostic procedures, the disorder is indistinguishable from CDGS type Ia (phosphomannomutase deficiency). Daily oral mannose administration is a successful therapy for this new type of CDG syndrome classified as CDGS type Ib.
R Niehues, M Hasilik, G Alton, C Körner, M Schiebe-Sukumar, H G Koch, K P Zimmer, R Wu, E Harms, K Reiter, K von Figura, H H Freeze, H K Harms, T Marquardt
Title and authors | Publication | Year |
---|---|---|
MPI-CDG with transient hypoglycosylation and antithrombin deficiency
ME de la Morena-Barrio, E Wypasek, D Owczarek, A Miñano, V Vicente, J Corral, A Undas |
Haematologica | 2018 |
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG
B Dimitrov, N Himmelreich, AL Ederveen, C Lüchtenborg, JG Okun, M Breuer, AM Hutter, M Carl, L Guglielmi, A Hellwig, KC Thiemann, M Jost, V Peters, C Staufner, GF Hoffmann, A Hackenberg, N Paramasivam, S Wiemann, R Eils, M Schlesner, S Strahl, B Brügger, M Wuhrer, GC Korenke, C Thiel |
Molecular Genetics and Metabolism | 2018 |
CDG Therapies: From Bench to Bedside
S Brasil, C Pascoal, R Francisco, D Marques-da-Silva, G Andreotti, P Videira, E Morava, J Jaeken, V dos Reis Ferreira |
International journal of molecular sciences | 2018 |
Perspectives on Glycosylation and Its Congenital Disorders
BG Ng, HH Freeze |
Trends in genetics : TIG | 2018 |
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant
A Deeb, AA Amoodi |
Clinical Case Reports | 2018 |
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)
D Lenz, P McClean, A Kansu, PE Bonnen, G Ranucci, C Thiel, BK Straub, I Harting, B Alhaddad, B Dimitrov, U Kotzaeridou, D Wenning, R Iorio, RW Himes, Z Kuloğlu, EL Blakely, RW Taylor, T Meitinger, S Kölker, H Prokisch, GF Hoffmann, TB Haack, C Staufner |
Genetics in Medicine | 2018 |
Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity, and Improves Host Metabolism
V Sharma, J Smolin, J Nayak, JE Ayala, DA Scott, SN Peterson, HH Freeze |
Cell Reports | 2018 |
Developmental Neuropathology
H Adle-Biassette, BN Harding, J Golden |
2018 | |
Protein N-Glycosylation in Cardiovascular Diseases and Related Risk Factors
I Gudelj, G Lauc |
Current Cardiovascular Risk Reports | 2018 |
Guerbet glycolipids from mannose: liquid crystals properties
M Patrick, NI Zahid, M Kriechbaum, R Hashim |
Liquid Crystals | 2018 |
Congenital disorders of glycosylation
IJ Chang, M He, CT Lam |
Annals of translational medicine | 2018 |
Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity and Improves Host Metabolism
V Sharma, J Smolin, J Nayak, JE Ayala, DA Scott, SN Peterson, HH Freeze |
SSRN Electronic Journal | 2018 |
An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect type ıb
P Haznedar, FT Eminoglu |
TURK PEDIATR ARSIVI | 2018 |