About: Phosphoenolpyruvate Carboxykinase Deficiency

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Phosphoenolpyruvate Carboxykinase Deficiency
rdfs:subClassOf	Rare Non-Neoplastic Disorder Carbohydrate Metabolism Disorder
Has_NICHD_Parent	Enzyme Deficiency Autosomal Recessive Inherited Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Phosphoenolpyruvate Carboxykinase Deficiency
UMLS_CUI	C0268194
Contributing_Source	NICHD
FULL_SYN	Phosphoenolpyruvate Carboxykinase (GTP) DeficiencyPTNICHD Phosphoenolpyruvate Carboxykinase DeficiencyPTNCI
DEFINITION	A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly.NCI
code	C99015

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