Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type
Methylmalonic aciduria and homocystinuria, cobalamin C type (cblC), constitute the most common inborn error of intracellular cobalamin metabolism. Here, we report the case of a 6-month-old child, presenting severe subacute neurological decline associated with failure to thrive. Biochemical tests ind...
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Elsevier
2025-02-01
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844025004669 |
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| author | Etienne Mondesert Bastien Baud Agathe Roubertie Jean-François Benoist Pierre-Edouard Grillet Jean-Paul Cristol Marie Céline Francois-Heude Manuel Schiff Stéphanie Badiou |
| author_facet | Etienne Mondesert Bastien Baud Agathe Roubertie Jean-François Benoist Pierre-Edouard Grillet Jean-Paul Cristol Marie Céline Francois-Heude Manuel Schiff Stéphanie Badiou |
| author_sort | Etienne Mondesert |
| collection | DOAJ |
| description | Methylmalonic aciduria and homocystinuria, cobalamin C type (cblC), constitute the most common inborn error of intracellular cobalamin metabolism. Here, we report the case of a 6-month-old child, presenting severe subacute neurological decline associated with failure to thrive. Biochemical tests indicated a disorder of intracellular cobalamin metabolism, with elevated urinary and plasma methylmalonic acid levels associated with high plasma homocysteine concentrations, with normal plasma vitamin B12 concentrations. Diagnosis was later confirmed by genetic analysis which identified two pathogenic variants on the MMACHC gene: c.271dupA (p.Arg91lysfs∗14) paternal allele and c.388T > C (p.Tyr130His) maternal allele. The patient responded well to hydroxocobalamin treatment, with a rapid recovery of symptoms and a normal growth at 2.8 years of follow-up. This case illustrates the importance of early diagnosis of cobalamin metabolism disorders by prescribing adequate biochemical tests. |
| format | Article |
| id | doaj-art-84cbbda931d348859365cddb0fa00f94 |
| institution | Kabale University |
| issn | 2405-8440 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj-art-84cbbda931d348859365cddb0fa00f942025-01-27T04:22:03ZengElsevierHeliyon2405-84402025-02-01113e42086Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C typeEtienne Mondesert0Bastien Baud1Agathe Roubertie2Jean-François Benoist3Pierre-Edouard Grillet4Jean-Paul Cristol5Marie Céline Francois-Heude6Manuel Schiff7Stéphanie Badiou8Department of Biochemistry, University Hospital of Montpellier, Montpellier, France; Institute for Neurosciences of Montpellier, University of Montpellier, INSERM U 1298, Montpellier, France; Corresponding author. Department of Biochemistry, Lapeyronie Hospital, Montpellier, F34295, France.Department of Biochemistry, University Hospital of Montpellier, Montpellier, FranceInstitute for Neurosciences of Montpellier, University of Montpellier, INSERM U 1298, Montpellier, France; Department of Pediatric Neurology, University Hospital of Montpellier, Montpellier, FranceDepartment of Biochemistry, Assistance Publique-Hôpitaux de Paris, Paris, France; Université Paris-Saclay, Paris, FranceDepartment of Biochemistry, University Hospital of Montpellier, Montpellier, France; PhyMedExp, Université de Montpellier (UM), Inserm, CNRS, Montpellier, FranceDepartment of Biochemistry, University Hospital of Montpellier, Montpellier, France; PhyMedExp, Université de Montpellier (UM), Inserm, CNRS, Montpellier, FranceInstitute for Neurosciences of Montpellier, University of Montpellier, INSERM U 1298, Montpellier, FranceReference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris cité, Paris, FranceDepartment of Biochemistry, University Hospital of Montpellier, Montpellier, France; PhyMedExp, Université de Montpellier (UM), Inserm, CNRS, Montpellier, FranceMethylmalonic aciduria and homocystinuria, cobalamin C type (cblC), constitute the most common inborn error of intracellular cobalamin metabolism. Here, we report the case of a 6-month-old child, presenting severe subacute neurological decline associated with failure to thrive. Biochemical tests indicated a disorder of intracellular cobalamin metabolism, with elevated urinary and plasma methylmalonic acid levels associated with high plasma homocysteine concentrations, with normal plasma vitamin B12 concentrations. Diagnosis was later confirmed by genetic analysis which identified two pathogenic variants on the MMACHC gene: c.271dupA (p.Arg91lysfs∗14) paternal allele and c.388T > C (p.Tyr130His) maternal allele. The patient responded well to hydroxocobalamin treatment, with a rapid recovery of symptoms and a normal growth at 2.8 years of follow-up. This case illustrates the importance of early diagnosis of cobalamin metabolism disorders by prescribing adequate biochemical tests.http://www.sciencedirect.com/science/article/pii/S2405844025004669Methylmalonic aciduria and homocystinuriaCobalamin C typeInborn error of metabolismHomocysteineMethylmalonic acidVitamin B12 |
| spellingShingle | Etienne Mondesert Bastien Baud Agathe Roubertie Jean-François Benoist Pierre-Edouard Grillet Jean-Paul Cristol Marie Céline Francois-Heude Manuel Schiff Stéphanie Badiou Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type Heliyon Methylmalonic aciduria and homocystinuria Cobalamin C type Inborn error of metabolism Homocysteine Methylmalonic acid Vitamin B12 |
| title | Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type |
| title_full | Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type |
| title_fullStr | Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type |
| title_full_unstemmed | Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type |
| title_short | Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type |
| title_sort | disorder of intracellular cobalamin metabolism importance of rapid diagnostic illustrated by a case report of early onset methylmalonic aciduria and homocystinuria cobalamin c type |
| topic | Methylmalonic aciduria and homocystinuria Cobalamin C type Inborn error of metabolism Homocysteine Methylmalonic acid Vitamin B12 |
| url | http://www.sciencedirect.com/science/article/pii/S2405844025004669 |
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