A case report of PEPCK-C deficiency in childhood: Metabolic laboratory findings affected by sudden acute liver failure

Andzela Lazdane (Corresponding Author), Svetlana Vorslova, Zanda Daneberga, Ieva Grīnfelde, Madara Auzenbaha, Ieva Puķīte

Research output: Contribution to journalMeeting Abstractpeer-review

Abstract

Background/Objectives: Cytosolic phosphoenolpyruvate carboxykinase deficiency (PEPCK-C) is a rare autosomal recessive disorder
caused by defect of PEPCK1 enzyme involved in metabolic
pathway of gluconeogenesis. Clinically broad variability from
severe neonatal hypoglycaemia, lactic acidosis, hepatomegaly and
ketonuria to late-onset milder forms with mild seizures and liver
disfunction, apnoea is observed.
Methods: We report a case of late-onset PEPCK-C deficiency
where in an acute state abnormal and unusual metabolite pattern
using GC-MS, UPLC-UV and TLC was observed.
Results: An 8-year-old girl with sudden, acute, unspecified liver
failure and renal insufficiency after increased body temperature
and prolonged vomiting was hospitalized. Some days before
illness she ate enormous amount of sugar which might be a
reason for grossly elevated sucrose level in carbohydrate spectra.
Organic acid profile showed elevated adipic acid (about three
times above the upper reference interval) and hydroxydicarboxylic
aciduria with excretion of 3-hydroxyadipic lactone, 2-hydroxyadipic, 3-hydroxyadipic and 3-hydroxysebacic acids. Increased level
of lactate, pyruvic acid, 3-methylglutaconic acid and abnormal
amount of tricarboxylic acid cycle metabolites such as fumarate,
malate, α-ketoglutarate were observed. Amino acid spectra
showed vast glutamine level in plasma (3217.1 µM/L, normal
<709.0 µM/L) and urine (2903.5 mmol/mol creatinine, normal
<137.0 mmol/mol creatinine). None of amino acid concentrations
showed decreased level, whereas almost all were detected as
elevated.
Conclusion: The presentation of first PEPCK-C deficiency
symptoms may occur in childhood, furthermore characteristic
laboratory findings are not always unambiguous. Wide variability
of metabolite abnormalities during metabolic crisis of cytosolic
phosphoenolpyruvate carboxykinase deficiency can be observe.
Original languageEnglish
Article numberEP08.018
Pages (from-to)1026-1026
Number of pages1
JournalEuropean Journal of Human Genetics
Volume32
Publication statusPublished - Dec 2024

Field of Science*

  • 3.1 Basic medicine
  • 3.2 Clinical medicine

Publication Type*

  • 3.3. Publications in conference proceedings indexed in Web of Science and/or Scopus database

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