Adult onset type II citrullinemia--a great masquerader

QJM. 2020 Jan 1;113(1):49-51. doi: 10.1093/qjmed/hcz238.

Authors

S Arora¹, M V Padma Srivastava¹, M B Singh¹, V Goyal¹, J Häberle², N Gupta³, A Prabhakar⁴, B Aggarwal³, A Agarwal³, V Y Vishnu¹

Affiliations

¹ Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
² Head Metabolic Laboratory, Division of Metabolism, University Children's Hospital Zurich, Eleonore Foundation, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland.
³ Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.
⁴ Department of Neuroradiology, All India Institute of Medical Sciences, New Delhi, India.

PMID: 31532496
DOI: 10.1093/qjmed/hcz238

No abstract available

Publication types

Case Reports

MeSH terms

Ammonia / blood
Brain Diseases / diagnostic imaging
Brain Diseases / etiology*
Citrullinemia / diagnosis*
Citrullinemia / diet therapy
Citrullinemia / drug therapy
Humans
Hyperammonemia / blood
Hyperammonemia / etiology*
Liver Transplantation
Magnetic Resonance Imaging
Male
Young Adult

Substances

Ammonia

Supplementary concepts

Adult-onset citrullinemia type 2