About: Enzyme Deficiency

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Attributes	Values
rdf:type	Class
rdfs:label	Enzyme Deficiency
rdfs:subClassOf	Abnormal Blood Chemistry and Hematology Test Result
Has_NICHD_Parent	Metabolic Diseases
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Laboratory or Test Result
Preferred_Name	Enzyme Deficiency
UMLS_CUI	C0149676
Contributing_Source	NICHD
ALT_DEFINITION	abnormal and/or pathologic state usually due to mutations in structural genes for enzyme polypeptides, manifesting as metabolic abnormalities.CSP2003
Legacy_Concept_Name	Enzyme_Deficiency
FULL_SYN	Enzyme DeficiencyPTNCI Specific Enzyme DeficiencyPTNICHD
DEFINITION	A finding in which there is a subnormal amount of an enzyme. Enzymes are proteins that are necessary in certain catabolic processes.NCI
code	C3492
is rdfs:subClassOf of	Methemoglobin Reductase Deficiency Steroid 21-Monooxygenase Deficiency Thiopurine Methyltransferase Deficiency
is Has_NICHD_Parent of	Methemoglobin Reductase Deficiency Leukodystrophy, Globoid Cell 5' 10' Methylenetetrahydrofolate Reductase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency 2-Methylbutyryl-CoA Dehydrogenase Deficiency NADH Dehydrogenase Deficiency Phosphoenolpyruvate Carboxykinase Deficiency Steroid 21-Monooxygenase Deficiency Pyruvate Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Long-Chain Deficiency Acyl-CoA Dehydrogenase, Medium-Chain Deficiency Argininosuccinic Aciduria Biotinidase Deficiency Pyruvate Carboxylase Deficiency Disease Acyl-CoA Dehydrogenase, Very Long-Chain Deficiency 5 Alpha Steroid Reductase 2 Deficiency Holocarboxylase Synthetase Deficiency Carnitine Palmitoyltransferase I Deficiency Cytochrome-c Oxidase Deficiency Glucosephosphate Dehydrogenase Deficiency

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