ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Methylmalonic Academia
Gene/Gene Panel: MUT, MMAA, MMAB, MMADHC, MCEE, MMACHC
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.0.4
P
Morbidity (B12 responsive and unresponsive form) (GroupA)
Metabolic management (includes dietary modification, l-carnitine, antibiotics) (GroupA) 9CB
Morbidity (B12 responsive only) (GroupA)
Injectable vitamin B12 (GroupA) 10CB
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
MUT ⇔ 0009612 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
Strong Actionability
Assertion Pending
MMAA ⇔ 0009613 METHYLMALONIC ACIDURIA, cblA TYPE
Strong Actionability
Assertion Pending
MMAB ⇔ 0009614 METHYLMALONIC ACIDURIA, cblB TYPE
Strong Actionability
Assertion Pending
MMADHC ⇔ 0010185 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD
Strong Actionability
Assertion Pending
MCEE ⇔ 0009615 METHYLMALONYL-CoA EPIMERASE DEFICIENCY
Strong Actionability
Assertion Pending
2022/02/09
Released (Under revision)
1.0.3
P
Morbidity (B12 responsive and unresponsive form) (GroupA)
Metabolic management (includes dietary modification, l-carnitine, antibiotics) (GroupA) 9CB
Morbidity (B12 responsive only) (GroupA)
Injectable vitamin B12 (GroupA) 10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
MUT ⇔ 0009612 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
Strong Actionability
Assertion Pending
MMAA ⇔ 0009613 METHYLMALONIC ACIDURIA, cblA TYPE
Strong Actionability
Assertion Pending
MMAB ⇔ 0009614 METHYLMALONIC ACIDURIA, cblB TYPE
Strong Actionability
Assertion Pending
MMADHC ⇔ 0010185 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD
Strong Actionability
Assertion Pending
MCEE ⇔ 0009615 METHYLMALONYL-CoA EPIMERASE DEFICIENCY
Strong Actionability
Assertion Pending
2022/01/14
Released
1.0.3
P
Morbidity (B12 responsive and unresponsive form) (GroupA)
Metabolic management (includes dietary modification, l-carnitine, antibiotics) (GroupA) 9CB
Morbidity (B12 responsive only) (GroupA)
Injectable vitamin B12 (GroupA) 10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
MUT ⇔ 0009612 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
Strong Actionability
Assertion Pending
MMAA ⇔ 0009613 METHYLMALONIC ACIDURIA, cblA TYPE
Strong Actionability
Assertion Pending
MMAB ⇔ 0009614 METHYLMALONIC ACIDURIA, cblB TYPE
Strong Actionability
Assertion Pending
MMADHC ⇔ 0010185 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD
Strong Actionability
Assertion Pending
MCEE ⇔ 0009615 METHYLMALONYL-CoA EPIMERASE DEFICIENCY
Strong Actionability
Assertion Pending
2022/01/14
Released (Under revision)
1.0.2
P
Morbidity (B12 responsive and unresponsive form) (GroupA)
Metabolic management (includes dietary modification, l-carnitine, antibiotics) (GroupA) 9CB
Morbidity (B12 responsive only) (GroupA)
Injectable vitamin B12 (GroupA) 10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
MUT ⇔ 0009612 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
Strong Actionability
Assertion Pending
MMAA ⇔ 0009613 METHYLMALONIC ACIDURIA, cblA TYPE
Strong Actionability
Assertion Pending
MMAB ⇔ 0009614 METHYLMALONIC ACIDURIA, cblB TYPE
Strong Actionability
Assertion Pending
MMADHC ⇔ 0010185 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD
Strong Actionability
Assertion Pending
MCEE ⇔ 0009615 METHYLMALONYL-CoA EPIMERASE DEFICIENCY
Strong Actionability
Assertion Pending
2021/12/01
Released
1.0.2
P
Morbidity (B12 responsive and unresponsive form) (GroupA)
Metabolic management (includes dietary modification, l-carnitine, antibiotics) (GroupA) 9CB
Morbidity (B12 responsive only) (GroupA)
Injectable vitamin B12 (GroupA) 10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
MUT ⇔ 0009612 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
Strong Actionability
Assertion Pending
MMAA ⇔ 0009613 METHYLMALONIC ACIDURIA, cblA TYPE
Strong Actionability
Assertion Pending
MMAB ⇔ 0009614 METHYLMALONIC ACIDURIA, cblB TYPE
Strong Actionability
Assertion Pending
MMADHC ⇔ 0010185 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD
Strong Actionability
Assertion Pending
MCEE ⇔ 0009615 METHYLMALONYL-CoA EPIMERASE DEFICIENCY
Strong Actionability
Assertion Pending
2021/06/15
Released (Under revision)
1.0.1
P
Morbidity (B12 responsive and unresponsive form) (GroupA)
Metabolic management (includes dietary modification, l-carnitine, antibiotics) (GroupA) 9CB
2020/04/28
Released
1.0.1
P
Morbidity (B12 responsive and unresponsive form) (GroupA)
Metabolic management (includes dietary modification, l-carnitine, antibiotics) (GroupA) 9CB
2020/04/24
Released (Under revision)
1.0.0
P
Morbidity (B12 responsive and unresponsive form) (GroupA)
Metabolic management (includes dietary modification, l-carnitine, antibiotics) (GroupA) 9CB
2020/02/13
Released
1.0.0
P
Morbidity (B12 responsive and unresponsive form) (GroupA)
Metabolic management (includes dietary modification, l-carnitine, antibiotics) (GroupA) 9CB
2019/10/24
In Preparation
N/A
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