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CPE-009 · synthetic case B12-FX-16
Homocysteine 22 with B12 650 and folate 12
Adequate vitamins.
Purpose: Adequate vitamins.
Inputs the engine received
Laboratory
- Serum vitamin B12
- 650 pg/mL
- Homocysteine
- 22 µmol/L
- Serum folate
- 12 ng/mL
- eGFR
- 52 mL/min/1.73 m²
Patient
- Age
- 61 years
- Sex
- Male
What the engine reports
Detected clinical pattern
B12 Not Low on the Value Entered
Serum B12 is above 300 pg/mL. If suspicion remains (neurologic features, nitrous oxide), methylmalonic acid can still be informative.
- B12 level: B12 650 pg/mL · above 300
Differentials, pitfalls and contradicting signals
- Contributors to a raised homocysteine with adequate B12 and folate: reduced kidney function, hypothyroidism, vitamin B6 deficiency and drugs. MTHFR genotyping is not recommended (ACMG).
Evidence and rule trace · 1 rules
B12-12Raised homocysteine with adequate B12 and folate
Inputs: homocysteine 22 µmol/L · B12 650 pg/mL · folate adequate
Look for other contributors to hyperhomocysteinemia.
Evidence
- EV-ACMG-MTHFR-2013 · Hickey SE, Curry CJ, Toriello HV. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2013;15(2):153-156.
Physician adjudication required. Clinical decision support for physician review. This output identifies laboratory patterns and safety considerations. It does not diagnose, find the cause, or select a vitamin product, dose or route. Physician adjudication is required.
Change the values
The same engine, starting from this case. Change any value and watch the pattern and the rule trace react.
Serum B12 level
✓ Below 200 pg/mL
Deficiency pattern
✓ 200 to 300 pg/mL
Borderline: MMA and homocysteine settle it
● Above 300 pg/mL
Deficiency unlikely, not excluded
Laboratory
- <200
- 200–300
- >300
Patient
Neurologic features
Drugs, diet and risk groups
More b12 cases
B12-FX-01
B12 of 150 pg/mL with macrocytic anemia
A 67-year-old with MCV 108.
B12-FX-02
Borderline B12 with raised MMA
B12 260 and MMA 0.52.
B12-FX-03
Borderline B12 and no confirmatory test
B12 250.
B12-FX-04
Macrocytic anemia, folic acid ordered, no B12
A safety situation.
B12-FX-05
Neuropathy, B12 220 and metformin for five years
Neurologic features with a borderline level.
B12-FX-06
Posterior-column signs and spasticity
A pattern compatible with subacute combined degeneration.
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