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Late-onset citrullinemia

MedGen UID:
541357
•Concept ID:
C0268546
•
Disease or Syndrome
Synonyms: Late-onset citrullinemia type 1; Late-onset citrullinemia type I
SNOMED CT: Late-onset citrullinemia type I (1264112006); Late-onset citrullinemia type 1 (1264112006)

Definition

A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur. [from SNOMEDCT_US]

Professional guidelines

PubMed

Pathogenesis and Management of Citrin Deficiency.
Hayasaka K
Intern Med 2024 Jul 15;63(14):1977-1986. Epub 2023 Nov 13 doi: 10.2169/internalmedicine.2595-23. PMID: 37952953Free PMC Article
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226
Hyperammonemia in review: pathophysiology, diagnosis, and treatment.
Auron A, Brophy PD
Pediatr Nephrol 2012 Feb;27(2):207-22. Epub 2011 Mar 23 doi: 10.1007/s00467-011-1838-5. PMID: 21431427

Recent clinical studies

Diagnosis

Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol.
Karall D, Haberlandt E, Albrecht U, Rostasy K, Häberle J, Scholl-Bürgi S
Neuropediatrics 2012 Apr;43(2):59-63. Epub 2012 Apr 3 doi: 10.1055/s-0032-1307453. PMID: 22473243

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