Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

Molecular Genetics and Metabolism

Volumn 110, Issue 4, 2013, Pages 484-489

  Lieu, Michelle T ^a   Ng, Bobby G ^b   Rush, Jeffrey S ^c   Wood, Tim ^d   Basehore, Monica J ^d   Hegde, Madhuri ^e   Chang, Richard C ^f   Abdenur, Jose E ^f   Freeze, Hudson H ^b   Wang, Raymond Y ^f  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b BURNHAM INSTITUTE   (United States)

^c UNIVERSITY OF KENTUCKY   (United States)

^d GREENWOOD GENETIC CENTER   (United States)

^e EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f Division of Metabolic Disorders   (United States)

Author keywords

Congenital disorder of glycosylation; Dolichol kinase deficiency; DOLK CDG; Hepatic dysfunction; Insulin resistant hyperglycemia; Renal failure

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; DOLICHOL KINASE; ENZYME; GLUCOSE; POTASSIUM; TRANSFERRIN; UNCLASSIFIED DRUG;

APNEA; ARTICLE; BRADYCARDIA; CASE REPORT; CATALYSIS; CONGENITAL DISORDER OF GLYCOSYLATION; CONGESTIVE CARDIOMYOPATHY; CYANOSIS; DYSPHAGIA; ELECTROSPRAY MASS SPECTROMETRY; GASTROESOPHAGEAL REFLUX; GENE MUTATION; GENITAL MALFORMATION; HEPATOMEGALY; HUMAN; HYPERGLYCEMIA; HYPERTENSION; HYPERTRICHOSIS; HYPOKALEMIA; KIDNEY FAILURE; MALE; MUSCLE HYPOTONIA; NEWBORN; PES EQUINOVARUS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SINUS TACHYCARDIA; SYSTOLIC HEART MURMUR; TONIC CLONIC SEIZURE;

4-(2-HYDROXYETHYL)-1-PIPERAZINEETHANESULFONIC ACID; CONGENITAL DISORDER OF GLYCOSYLATION; CTP; CYTOSINE TRIPHOSPHATE; DOLICHOL KINASE DEFICIENCY; DOLK-CDG; EDTA; ETHYLENEDIAMINETETRAACETIC ACID; HEPATIC DYSFUNCTION; HEPES; INSULIN-RESISTANT HYPERGLYCEMIA; RENAL FAILURE;

AMINO ACID SEQUENCE; CARDIOMYOPATHY, DILATED; CONGENITAL DISORDERS OF GLYCOSYLATION; DOLICHOL; FATAL OUTCOME; GLYCOSYLATION; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM; MALE; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 84897065262     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.09.016     Document Type: Article

References (16)

1. Freeze H.H., Eklund E.A., Ng B.G., Patterson M.C. Neurology of inherited glycosylation disorders. Lancet Neurol. 2012, 11:453-466.
2. Eklund E.A., Freeze H.H. The congenital disorders of glycosylation: a multifaceted group of syndromes. NeuroRx 2006, 3:254-263.
3. Kapusta L., Zucker N., Frenckel G., Medalion B., Gal T.B., Birk E., et al. From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). Heart Fail. Rev. 2013, 18:187-196.
4. Kranz C., Jungeblut C., Denecke J., Erlekotte A., Sohlback C., Debus V., et al. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am. J. Hum. Genet. 2007, 80:433-440.
5. Cantagrel V., Lefeber D.J. From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases. J. Inherit. Metab. Dis. 2011, 34:859-867.
6. Helander A., Stödberg T., Jaeken J., Matthijs G., Eriksson M., Eggertsen G. Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. Mol. Genet. Metab. 2013, 10.1016/j.ymgme.2013.07.002.
7. Jones M.A., Bhide S., Chin E., Ng B.G., Rhodenizer D., Zhang V.W., et al. Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. Genet. Med. 2011, 13:921-932.
8. Sumbilla C., Waechter C.J. Dolichol kinase, phosphatase, and esterase activity in calf brain. Meth. Enzymol. 1985, 111:471-482.
9. Al-Gazali L., Hertecant J., Algawi K., El Teraifi H., Dattani M. A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. Am. J. Med. Genet. A 2008, 146:813-819.
10. Lefeber D.J., de Brouwer A.P.M., Morava E., Riemersma M., Schuurs-Hoeijmakers J.H.M., Absmanner B., et al. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet. 2011, 7:e1002427.
11. Lefeber D.J., Schönberger J., Morava E., Guillard M., Huyben K.M., Verrijp K., et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am. J. Hum. Genet. 2009, 85:76-86.
12. Yang A.C., Ng B.G., Moore S.A., Rush J., Waechter C.J., Raymond K.M., et al. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol. Genet. Metab. 2013, 10.1016/j.ymgme.2013.06.016.
13. Barone R., Aiello C., Race V., Morave E., Foulquier F., Riemersma M., et al. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann. Neurol. 2012, 72:550-558.
14. Margeta M., Connolly A.M., Winder T.L., Pestronk A., Moore S.A. Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. Muscle Nerve 2009, 40:883-889.
15. Kumar P., Henikoff S., Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 2009, 4:1073-1081.
16. Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., et al. A method and server for predicting damaging missense mutations. Nat. Methods 2010, 7:248-249.