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Article

Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.

Molecular genetics and metabolism - 1 Nov 2013

Helander Anders, Stödberg Tommy, Jaeken Jaak, Matthijs Gert, Eriksson Maud, Eggertsen Gösta

Abstract excerpt

A 4-month old boy presented with multiple epileptic seizure types including West syndrome. Screening for infectious and structural etiologies showed normal results. A metabolic investigation was undertaken to investigate the cause of his neurological disease. Screening for congenital disorders of glycosylation (CDG) by HPLC analysis of serum carbohydrate-deficient transferrin (CDT) showed a type 1 pattern with...

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Source

Identifiers

PMID: 23890587
DOI: 10.1016/j.ymgme.2013.07.002

Genes

DOLK
MPI
PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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