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Last reviewed: 21 Mar 2025
Last updated: 21 Dec 2023

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • dermatitis
  • insomnia, depression, or memory loss
  • intermittent stupor
  • hallucinations or delirium
  • weakness
  • peripheral neuropathy
  • oppositional hypertonus or myoclonus
  • cogwheel rigidity
  • primitive reflexes
  • ataxia
  • nausea, vomiting, or diarrhoea
  • glossitis, cheilitis, or stomatitis

Other diagnostic factors

  • fatigue
  • anxiety or paranoia
  • anorexia, weight loss, or cachexia
  • headache
  • vertigo
  • incontinence
  • constipation
  • heartburn
  • angular palpebritis

Risk factors

  • malnutrition
  • chronic alcohol use disorder
  • vitamin B2 (riboflavin) deficiency
  • vitamin B6 (pyridoxine) deficiency
  • malabsorption
  • eating disorders
  • Hartnup's disease
  • carcinoid syndrome
  • antituberculous drugs
  • Crohn's disease
  • HIV infection
  • copper deficiency
  • certain drugs
  • pregnancy and lactation
  • age >65 years
  • Alzheimer's disease
  • Parkinson's disease

Diagnostic investigations

1st investigations to order

  • serum tryptophan
  • urinary N-methylnicotinamide
  • urinary N-methyl-2-pyridone-5-carboxamide
  • urinary 2-pyridone/N-methylnicotinamide ratio
  • skin biopsy
  • photosensitivity testing
  • FBC
  • serum albumin
  • serum protein
  • LFTs
  • gamma-GT

Investigations to consider

  • serum total iron
  • iron-binding capacity
  • ferritin
  • transketolase activity
  • thiamine pyrophosphate (TPP)
  • riboflavin coefficient
  • serum pyridoxal-5-phosphate
  • serum cyanocobalamin
  • serum folic acid
  • red cell folic acid
  • stool examination
  • neutral aminoaciduria
  • serum serotonin
  • platelet serotonin
  • urinary 5-hydroxyindoleacetic acid
  • HIV antibodies
  • mental-state examination
  • ECG

Treatment algorithm

Contributors

Authors

Whadi-ah Parker, PhD, RD(SA)

Senior Research Specialist

Centre for the Study of the Social and Environmental Determinants of Nutrition

Population Health, Health Systems and Innovation

HSRC

Cape Town

South Africa

Disclosures

WP declares that she has no competing interests.

Zandile J Mchiza, RD, PhD

Professor

School of Public Health

University of the Western Cape

Cape Town

South Africa

Disclosures

ZJM declares that she has no competing interests.

Acknowledgements

Dr Whadi-ah Parker and Dr Zandile J Mchiza would like to gratefully acknowledge Dr Demetre Labadarios and Dr Nelia Patricia Steyn, as previous contributors of this topic, as well as Miss Nophiwe Job, Ms Nwabisa Tshefu, and Mr Machoene Derrick Sekgala for their contributions to this topic. DL, NPS, NJ, NT, and MDS declare that they have no competing interests.

Peer reviewers

Alan Shenkin, MB, ChB, BSc, PhD, FRCP, FRCPath

Emeritus Professor of Clinical Chemistry

University of Liverpool

UK

Disclosures

AS declares that he has no competing interests.

Alfredo Morabia, MD, PhD, MS

CBNS

Queens College

City University of New York

NY

Disclosures

AM declares that he has no competing interests.

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