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Article

Congenital disorders of glycosylation with neonatal presentation.

BMJ case reports - 16 Apr 2014

Resende Catarina, Carvalho Carmen, Alegria Artur, Oliveira Dulce, Quelhas Dulce, Bandeira Anabela, Proença Elisa

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a group of hereditary diseases characterised by deficiency of enzymes involved in proteins glycosylation. We describe the clinical case of a neonate with CDG type 1a, nowadays designated phosphomannomutase 2 (PMM2)-CDG. Physical examination showed an abnormal facies, axial hypotonia, abnormal fat distribution, inverted nipples, non-palpable testicles and...

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Source

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Identifiers

PMID: 24739649
DOI: 10.1136/bcr-2013-010037
PMCID: PMC3992553

Genes

PMM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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