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Pyruvate carboxylase deficiency

disorder
SNOMED 87694001CUI C0034341

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cognitive delay
Always present (100%)HP:0001263
Elevated lactate:pyruvate ratio
Very frequent (80-99%)HP:0032653
Higher than normal levels of lactate in blood
Very frequent (80-99%)HP:0002151
Lacticacidemia
Very frequent (80-99%)HP:0003128
Abnormal pyruvate-family amino acid levels in cerebrospinal fluid
Frequent (30-79%)HP:0500231
Decreased CSF glutamine concentration
Frequent (30-79%)HP:0500198
Elevated brain choline level by MRS
Frequent (30-79%)HP:0012706
Elevated brain lactate level by MRS
Frequent (30-79%)HP:0012707
Elevated circulating ketone body concentration
Frequent (30-79%)HP:0410175
Elevated plasma citrulline
Frequent (30-79%)HP:0011966
Epilepsy
Frequent (30-79%)HP:0001250
High blood ammonia levels
Frequent (30-79%)HP:0001987
High blood glutamate levels
Frequent (30-79%)HP:0500149
High glutamic acid levels in cerebrospinal fluid
Frequent (30-79%)HP:0500200
Hyperalaninemia
Frequent (30-79%)HP:0003348
Hyperlysinemia
Frequent (30-79%)HP:0002161
Hyperprolinemia
Frequent (30-79%)HP:0008358
Hypoglutaminemia
Frequent (30-79%)HP:0500147
Increased caudate lactate level
Frequent (30-79%)HP:0012644
Increased circulating taurine levels in the blood
Frequent (30-79%)HP:0500181
Increased CSF alanine concentration
Frequent (30-79%)HP:0500233
Increased CSF citrulline concentration
Frequent (30-79%)HP:0500246
Increased CSF lactic acid
Frequent (30-79%)HP:0002490
Increased serum pyruvate
Frequent (30-79%)HP:0003542
Increased urine lactate
Frequent (30-79%)HP:0003648
Metabolic acidosis
Frequent (30-79%)HP:0001942
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Poor growth
Frequent (30-79%)HP:0001510
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Reduced brain N-acetyl aspartate level by MRS
Frequent (30-79%)HP:0012708

Related Conditions

Inborn error of pyruvate metabolism(parent)
Enzymopathy(parent)
Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT
87694001
UMLS CUI
C0034341
Fully Specified Name
Pyruvate carboxylase deficiency (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.