WormMine: DiseaseOntology DOID:3651 pyruvate carboxylase deficiency disease Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.

1 Ontology

• Name: Disease Ontology

6 Parents

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667	disease of metabolism	A disease that involves errors in metabolic processes of building or degradation of molecules.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:2978	carbohydrate metabolic disorder	An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
DOID:3651	pyruvate carboxylase deficiency disease	A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.

5 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:2978	DOID:3651
is_a	DOID:655	DOID:3651
is_a	DOID:0014667	DOID:3651
is_a	DOID:4	DOID:3651
is_a	DOID:630	DOID:3651

1 Synonyms

• Name: deficiency of pyruvic carboxylase
• Type: synonym