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Propionylcarnitine (C3)/Acetylcarnitine (C2) - Analyte/Measurement Details

Names and Codes

LOINC® Long Common Name:1 Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in Dried blood spot
Analyte Short Name:2 C3 / C2
LOINC Number:3 53163-2
Units:4 {ratio}

Conditions

The analyte/measurement serves as a marker for the following conditions.

Condition5
Choose condition to view related measurements
Abbreviation5 Category6 SNOMED CT Code7 ICD-9-​CM Code8 ICD-10-​CM Code9 Affected Protein10 EC#11 UniProt Number12
Methylmalonic acidemia MUT Core
124680001
270.3
E71.120
Methylmalonyl-CoA mutase
5.4.99.2
P22033
Methylmalonic acidemia CBL A Core
73843004
270.3
E71.120
Methylmalonyl-CoA mutase
5.4.99.2
P22033
Methylmalonic acidemia CBL B Core
82245003
270.3
E71.120
Methylmalonyl-CoA mutase
5.4.99.2
P22033
Methylmalonic aciduria and homocystinuria CBL C Secondary
74653006
270.3
E71.120
Methylmalonyl-CoA mutase
5.4.99.2
P22033
Methylmalonic aciduria and homocystinuria CBL D Secondary
31220004
270.3
E71.120
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
None
Q9H3L0
Multiple carboxylase deficiency MCD Core
360369003
270.3
D81.818
Biotin--[methylcrotonoyl-CoA-carboxylase] ligase
6.3.4.11
P50747
Propionic acidemia PROP Core
69080001
270.3
E71.121
Propionyl-CoA carboxylase
6.4.1.3
P05165
P05166
Succinyl-CoA ligase deficiency SUCLA2 Other
445275003
277.87
E88.40
Succinate--CoA ligase (ADP-forming)
6.2.1.5
Q9P2R7

Legend

1

LOINC Long Common Name — derived by the Logical Observation Identifiers Names and CodesExternal Web Site Policy (LOINC®) Committee from the measurement's formal name by using conventional names for analytes and procedures. The long common name eliminates the parts of the formal name that are not needed to distinguish the test from related tests.

2

Analyte Short Name — an abbreviation for the analyte.

3

LOINC Number — the unique and permanent code assigned by the Logical Observation Identifiers Names and CodesExternal Web Site Policy (LOINC®) Committee to identify the test measurement. LOINC codes are unique for different test methods and different units of reporting to enable interoperability and comparison of results from different labs. LOINC is a U.S. government standard for electronic health information exchange of laboratory tests and other measurements in Interoperability Specifications produced by the Healthcare Information Technology Standards Panel (HITSP).

4

Units — what is being counted or measured, using the Unified Code for Units of MeasureExternal Web Site Policy (UCUM). Ratios whose units fully cancel each other are indicated by {Ratio}. UCUM is the US standard for reporting units in laboratory messages. Results that are not quantitative have either a link to the specific LOINC answer list for that analyte or appropriate text (such as "Pos or Neg" or "Specific alleles").

5

Condition Name and Abbreviation — curated by the NLM and selected from among the names used by the Advisory Committee on Heritable Disorders in Newborns and Children (Committee), National Newborn Screening Information System (NNSIS), the American College of Medical Genetics (ACMG), the HHS Office of the National Coordinator for Health Information Technology (ONC)/American Health Information Community (AHIC) Personalized Health Care Work Group, and input from the newborn screening community.

6

Category — based on the U.S. Department of Health and Human Services (HHS) Recommended Uniform Screening Panel. Conditions designated as "core" should be included in every newborn screening program, and "secondary" conditions are some of the disorders that may be detected during screening for a core disorder. Conditions classified as "other" are those that are screened for by some states but are not part of the Recommended Uniform Screening Panel.

7

SNOMED CT® CodeSystematized Nomenclature of Medicine — Clinical Terms code is assigned by the International Health Terminology Standards Development Organisation (IHTSDO). SNOMED CT is a concept-oriented clinical terminology that has been designated as a U.S. standard for electronic health information exchange. The Newborn Screening Coding and Terminology Guide uses some codes from the US Extension to SNOMED CT.

8

ICD-9-CM CodeInternational Classification of Diseases, Ninth Revision, Clinical Modification code is assigned to diagnoses associated with hospital utilization in the U.S. It is a current US standard for use in administrative healthcare transactions. Although ICD-9-CM codes are fairly specific, in certain cases, the same ICD-9-CM code might apply to several disorders in the same group (e.g. amino acid disorders).

9

ICD-10-CM CodeInternational Classification of Diseases, Tenth Revision, Clinical Modification code. Although ICD-10-CM codes are fairly specific, in certain cases, the same ICD-10-CM code might apply to multiple related disorders.

10

Affected Protein — the structure that is abnormal in this condition. The affected protein could be an enzyme, a hormone, or a specific molecule such as hemoglobin or immunoglobulin chain. If the affected protein is an enzyme, it will have an Enzyme Commission (EC) number.

11

Enzyme Commission (EC) Number — a unique identifier for the affected enzyme (if the affected protein is an enzyme); the EC number is assigned by the Recommendations of the Nomenclature Committee of the International Union of Biochemistry and Molecular Biology on the Nomenclature and Classification of Enzymes by the Reactions they CatalyseExternal Web Site Policy.

12

UniProt Number — a unique identifier assigned to all proteins, including enzymes, hemoglobin subunits, and immunoglobulin chains. The UniProt database is maintained by the Universal Protein ResourceExternal Web Site Policy, an international collaboration.

Record created: December 19, 2008
Record last updated: April 20, 2011