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Updated: Aug 28, 2025
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Functional Complementation Analysis FCA: A Laboratory Exercise Designed and Implemented to Supplement the Teaching of Biochemical Pathways
Published on: June 24, 2016
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Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease
Anna J Esser1, Srijan Mukherjee1, Ilia A Dereven'kov2
1Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center - University of Freiburg, 79106 Freiburg, Germany.
Iscience
|September 15, 2022
Summary
CblC disease, a common inborn error of vitamin B12 metabolism, stems from MMACHC gene mutations. This review details cblC disease, its genetic basis, patient outcomes, and potential treatments.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Vitamin B12 deficiency and genetic errors cause hematological and neurological issues.
- CblC disease is the most common inherited disorder of vitamin B12 metabolism, caused by MMACHC gene mutations.
- Mutations disrupt B12 processing, leading to elevated homocysteine (Hcy) and methylmalonic acid (MMA).
Purpose of the Study:
- To review current knowledge on cblC disease.
- To explore the structure-function of the MMACHC protein.
- To summarize genotypic/phenotypic spectra, disease models, and therapies.
Main Methods:
- Literature review of cblC disease.
- Analysis of MMACHC gene mutations and their impact.
- Examination of clinical manifestations and patient data.
Main Results:
- CblC disease results from MMACHC mutations affecting B12 metabolism.
- Elevated Hcy and MMA are key biochemical markers.
- The disorder presents with diverse multi-organ involvement across age groups.
Conclusions:
- Understanding MMACHC structure-function is crucial for cblC disease.
- Genotype-phenotype correlations guide diagnosis and management.
- Research into experimental models and therapies offers hope for patients.
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