ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Medium-chain acyl coenzyme A dehydrogenase deficiency
Gene/Gene Panel: ACADM
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2023/10/16
Released
1.0.3
P
Morbidity associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8ND
Metabolic management (dietary management and illness protocols) (GroupA) 11NB
Mortality associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8CD
Metabolic management (dietary management and illness protocols) (GroupA) 11CB
Re-released after adding some additional information to several sections of the report to aid the scoring in the adult context.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ACADM ⇔ 0008721 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
Strong Actionability
Strong Actionability
2023/10/02
Released (Under revision)
1.0.2
P
Morbidity associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8ND
Metabolic management (dietary management and illness protocols) (GroupA) 11NB
Mortality associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8CD
Metabolic management (dietary management and illness protocols) (GroupA) 11CB
Added small details and one small case series provided by a metabolic expert in order to aid scoring in the adult context.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ACADM ⇔ 0008721 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
Strong Actionability
Strong Actionability
2023/09/19
Released
1.0.2
P
Morbidity associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8ND
Metabolic management (dietary management and illness protocols) (GroupA) 11NB
Mortality associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8CD
Metabolic management (dietary management and illness protocols) (GroupA) 11CB
Added small details and one small case series provided by a metabolic expert in order to aid scoring in the adult context.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ACADM ⇔ 0008721 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
Strong Actionability
Strong Actionability
2023/09/19
Released (Under revision)
1.0.1
P
Morbidity associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8ND
Metabolic management (dietary management and illness protocols) (GroupA) 11NB
Mortality associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8CD
Metabolic management (dietary management and illness protocols) (GroupA) 11CB
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ACADM ⇔ 0008721 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
Strong Actionability
Strong Actionability
2022/02/09
Released
1.0.1
P
Morbidity associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8ND
Metabolic management (dietary management and illness protocols) (GroupA) 11NB
Mortality associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8CD
Metabolic management (dietary management and illness protocols) (GroupA) 11CB
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ACADM ⇔ 0008721 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
Strong Actionability
Strong Actionability
2022/02/09
Released (Under revision)
1.0.0
P
Morbidity associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8ND
Metabolic management (dietary management and illness protocols) (GroupA) 11NB
Mortality associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8CD
Metabolic management (dietary management and illness protocols) (GroupA) 11CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ACADM ⇔ 0008721 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
Strong Actionability
Strong Actionability
2020/12/22
Released
1.0.0
P
Morbidity associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8ND
Metabolic management (dietary management and illness protocols) (GroupA) 11NB
Mortality associated with metabolic decompensation (GroupA)
Carnitine therapy when carnitine levels are insufficient (GroupA) 8CD
Metabolic management (dietary management and illness protocols) (GroupA) 11CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ACADM ⇔ 0008721 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
Strong Actionability
Strong Actionability
2020/12/03
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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