Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders

Thatjana Gardeitchik, Jeroen Wyckmans, Eva Morava-Kozicz

Research output: Contribution to journalReview article

2 Scopus citations

Abstract

Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease. Chronic lactic acidosis is highly suggestive of mitochondrial dysfunction. Serum transferrin isoform analysis is specific for glycosylation abnormalities but not abnormal in all types of CDG.

Original languageEnglish (US)
Pages (from-to)375-388
Number of pages14
JournalPediatric Clinics of North America
Volume65
Issue number2
DOIs
StatePublished - Apr 1 2018
Externally publishedYes

Keywords

  • Cholestasis
  • Cutis laxa
  • Glycosylation
  • Hypoglycemia
  • Lactic acid
  • Mitochondrial disease
  • Stroke-like episodes
  • Transferrin isoelectric focusing (TIEF)

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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