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.
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 language | English |
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Article number | EP08.018 |
Pages (from-to) | 1026-1026 |
Number of pages | 1 |
Journal | European Journal of Human Genetics |
Volume | 32 |
Publication status | Published - 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