Traits

Traits linked to PCK1

phosphoenolpyruvate carboxykinase 1

The Human Phenotype Ontology links 40 traits to PCK1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated circulating alanine aminotransferase concentration	Always
Increased lactate in body	Always
Low blood sugar	Always
Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts	Always
Recurrent low blood sugar levels	Very often (80–99%)
Elevated circulating aspartate aminotransferase concentration	Often (30–79%)
Elevated urine fumaric acid level	Often (30–79%)
High plasma glutamine	Often (30–79%)
High urine lactic acid levels	Often (30–79%)
Higher than normal levels of lactate in blood	Often (30–79%)
Hypoglycemic seizures	Often (30–79%)
Increased urine alpha-ketoglutarate concentration	Often (30–79%)
Fatty infiltration of liver	Sometimes (5–29%)
Low blood sugar in newborn	Sometimes (5–29%)
High blood ammonia levels	Rarely (1–4%)
Decreased circulating citrulline concentration	Not recorded
Impaired gluconeogenesis	Not recorded
Ketonuria	Not recorded
Low blood sugar when fasting	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Acute encephalopathy	Sometimes (5–29%)
Coma caused by low blood sugar	Sometimes (5–29%)
Drowsiness	Sometimes (5–29%)
Lethargy	Sometimes (5–29%)
Neurodevelopmental delay	Sometimes (5–29%)
Degeneration of cerebrum	Not recorded
EEG abnormality	Not recorded
Epilepsy	Not recorded
Global developmental delay	Not recorded
Hepatic encephalopathy	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Increased hepatic echogenicity	Always
Liver failure	Always
Decreased liver function	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)
Enlarged liver	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Fatty kidney	Not recorded

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PCK1 and how often each is seen. Find out more at hpo.jax.org.

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