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ALG1-CDG: a new case with early fatal outcome
A-K Rohlfing1, S Rust2, J Reunert1
1Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Münster, Germany.
Gene
|October 26, 2013
Summary
This study details a patient with ALG1-CDG, a rare inherited metabolic disorder. Researchers confirmed two specific ALG1 gene mutations as the cause of the severe symptoms observed.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Congenital disorders of glycosylation (CDG) encompass inherited metabolic diseases stemming from defects in glycoprotein and glycolipid synthesis.
- ALG1-CDG (CDG-Ik) results from a deficiency in GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase, encoded by the ALG1 gene.
Observation:
- A severely affected patient presented with feeding difficulties, diarrhea, hypoproteinemia, ascites, hypertonia, intractable seizures, apnea, cardiac and hepatic issues, and coagulation anomalies.
- Phenotypical, molecular, and biochemical analyses were performed on the patient.
Findings:
- Compound heterozygosity for two novel mutations in the ALG1 gene, c.1145T>C (M382T) and c.1312C>T (R438W), were identified.
- Both identified mutations were confirmed as pathogenic, causing ALG1-CDG.
Implications:
- This research clarifies the molecular basis of ALG1-CDG in a severe case.
- Confirms the pathogenicity of the R438W mutation, previously only speculated.
- Contributes to understanding the genetic basis and clinical spectrum of CDG disorders.
Keywords:
ALG1ALG1 pseudogenesALTASTAT-IIIAlanine-aminotransferaseAntithrombin-IIIAsparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)=chitobiosyldiphosphodolichol beta-mannosyltransferaseAspartate aminotransferaseC-reactive protein (reacting with C-polysaccharide of Pneumococcus)CDGCDTCEPHCHECKCK-MBCPAPCRPCarbohydrate deficient transferrinCentre d'Etude du Polymorphisme HumainCholinesteraseCongenital disorder of glycosylation type IkCongenital disorders of glycosylationContinuous positive airway pressureCreatine kinaseCreatine kinase - muscle-brain, i.e. myocardial subtype of CKDMEMDMSODNA complementary to RNADPAGT1DemethylsulfoxideDeoxyribonucleoside triphosphateDolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1Dulbecco's Modified Eagle's MediumEDTAEthylenediaminetetraacetic acidGDPGLDHGOTGPTGlcGlcNAcGlucoseGlutamate dehydrogenaseGlutamic oxaloacetic transaminaseGlutamic-pyruvic transaminaseGuanosine diphosphateHMT1HPLCHigh performance liquid chromatographyHuman mannosyltransferase 1HypoglycosylationHypoproteinemiaIEFIGF1IGFBP3IMPPIgGImmunoglobulin GImmunoprecipitationInsulin-like growth factor 1Insulin-like growth factor-binding protein 3Isoelectric focusingKilodaltonsLLOLipid-linked oligosaccharidesMEMManMannoseMinimum essential mediumN-acetyl-d-glucosaminePAGEPBSPCRPPPhosphate buffered salinePolyacrylamide-gel electrophoresisPolymerase chain reactionPyrophosphateRERRough endoplasmic reticulumSDSSeizuresSodium dodecyl sulfatecDNAdNTPkDa
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