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  1. Article ; Online: A case of pink urine associated with abdominal pain crisis

    Gernez, Emeline / Kim, Isabelle / Douillard, Claire / Dobbelaere, Dries / Grzych, Guillaume

    Annales de biologie clinique

    2022  Volume 80, Issue 4, Page(s) 389–392

    Abstract: An adolescent girl consults a physician for abdominal pain attacks occurring regularly for 2 years. After eliminating gastroenterologic or gynecologic causes, an acute hepatic porphyria is suspected. The pink color of her urine seems consistent with the ... ...

    Title translation Un cas d’urines roses associées à des crises de douleurs abdominales
    Abstract An adolescent girl consults a physician for abdominal pain attacks occurring regularly for 2 years. After eliminating gastroenterologic or gynecologic causes, an acute hepatic porphyria is suspected. The pink color of her urine seems consistent with the suspicion of porphyria; however, the urinary profile of porphyrins and its precursors is normal.
    MeSH term(s) Abdominal Pain/diagnosis ; Abdominal Pain/etiology ; Adolescent ; Female ; Humans ; Porphobilinogen Synthase ; Porphyrias ; Porphyrias, Hepatic ; Porphyrins
    Chemical Substances Porphyrins ; Porphobilinogen Synthase (EC 4.2.1.24)
    Language French
    Publishing date 2022-09-13
    Publishing country France
    Document type Journal Article
    ZDB-ID 418098-7
    ISSN 1950-6112 ; 0003-3898
    ISSN (online) 1950-6112
    ISSN 0003-3898
    DOI 10.1684/abc.2022.1743
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  2. Article: Citrin deficiency: Does the reactivation of liver aralar-1 come into play and promote HCC development?

    Mention, Karine / Joncquel Chevalier Curt, Marie / Dessein, Anne-Frédérique / Douillard, Claire / Dobbelaere, Dries / Vamecq, Joseph

    Biochimie. 2021 Nov., v. 190

    2021  

    Abstract: Hepatocellular carcinoma (HCC) is a longstanding issue in clinical practice and metabolic research. New clues in better understanding the pathogenesis of HCC might relate to the metabolic context in patients with citrin (aspartate-glutamate carrier 1) ... ...

    Abstract Hepatocellular carcinoma (HCC) is a longstanding issue in clinical practice and metabolic research. New clues in better understanding the pathogenesis of HCC might relate to the metabolic context in patients with citrin (aspartate-glutamate carrier 1) deficiency (CD). Because citrin-deficient liver (CDL) is subject to HCC, it represents a unique metabolic model to highlight the mechanisms of HCC promotion, offering different angles of study than the classical metabolic syndrome/obesity/non-alcoholic fatty liver disease (NAFLD)/HCC study axis. In turn, the metabolic features of HCC could shed light on the pathogenesis of CDL. Among these, HCC-induced re-activation of aralar-1 (aspartate-glutamate carrier 2), physiologically not expressed in the adult liver, might take place in CDL, so gene redundancy for mitochondrial aspartate-glutamate carriers would be exploited by the CDL. This proposed (aralar-1 re-activation) and known (citrate/malate cycle) adaptive mechanisms may substitute for the impaired function in CD and are consistent with the clinical remission stage of CD and CD improvement by medium-chain triglycerides (MCT). However, these metabolic adaptive benefits could also promote HCC development. In CD, as a result of PPARα down-regulation, liver mitochondrial fatty acid-derived acetyl-CoA would, like glucose-derived acetyl-CoA, be used for lipid anabolism and fuel nuclear acetylation events which might trigger aralar-1 re-activation as seen in non-CD HCC. A brief account of these metabolic events which might lead to aralar-1 re-activation in CDL is here given. Consistency of this account for CDL events further relies on the protective roles of PPARα and inhibition of mitochondrial and plasma membrane citrate transporters in non-CD HCC.
    Keywords acetyl coenzyme A ; acetylation ; adults ; anabolism ; citrates ; fatty liver ; genes ; hepatoma ; liver ; malates ; metabolic syndrome ; mitochondria ; models ; pathogenesis ; plasma membrane ; remission
    Language English
    Dates of publication 2021-11
    Size p. 20-23.
    Publishing place Elsevier B.V.
    Document type Article
    ZDB-ID 120345-9
    ISSN 0300-9084
    ISSN 0300-9084
    DOI 10.1016/j.biochi.2021.06.018
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  3. Article: Onset of psychiatric signs and impaired neurocognitive domains in inherited metabolic disorders: A case series.

    Medjkane, François / Bohet, Marine / Ister, Marielle / Cohen, David / Parenti, Aesa / Janati, Majda / Mention, Karine / Dobbelaere, Dries / Jardri, Renaud

    JIMD reports

    2021  Volume 58, Issue 1, Page(s) 29–36

    Abstract: Inherited metabolic disorders (IMDs) can present with psychiatric signs that vary widely from one disease to another. This picture is further complicated by the fact that these features occur at very different illness time points, which may further delay ...

    Abstract Inherited metabolic disorders (IMDs) can present with psychiatric signs that vary widely from one disease to another. This picture is further complicated by the fact that these features occur at very different illness time points, which may further delay appropriate diagnosis and treatment. In this case series of 62 children and adolescents suffering from IMDs, we clustered psychiatric signs (on the basis of the fifth edition of the Diagnostic and Statistical Manual for Mental Disorders classification) as well as impaired cognitive domains (on the basis of the Research Domain Criteriamatrix) according to their mean age of onset (5.7 ± 4 years). We observed consistent patterns of occurrence across disorders. Externalizing symptoms, sleep problems, and cross-domain self-regulation deficits were found to precede the IMD diagnosis. Repetitive thoughts and behaviors as well as emotional dysregulation were found to occur around the disease onset. Finally, late-onset features included dissociative or eating disorders, together with impaired emotion knowledge. Clinicians should specifically look for the co-occurrence of age-specific atypical signs, such as treatment resistance or worsening with psychotropic medication in the earliest stages and symptom fluctuation, confusion, catatonia, or isolated visual hallucinations. We believe that the combined characterizations of psychiatric signs and impaired neurocognitive domains may enable the earliest detection of IMDs and the appropriate care of these particular manifestations.
    Key points: Psychiatric signs are common in inherited metabolic disorders (IMDs) and may occur in the same age-range as other clinical manifestations.Three clusters of psychiatric signs and two clusters of neurocognitive domains can be defined according to their mean age of onset.Warning signs to be used in liaison psychiatry should include age-specific cognitive impairments.
    Language English
    Publishing date 2021-02-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2672872-2
    ISSN 2192-8312 ; 2192-8304
    ISSN (online) 2192-8312
    ISSN 2192-8304
    DOI 10.1002/jmd2.12133
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  4. Article ; Online: Citrin deficiency: Does the reactivation of liver aralar-1 come into play and promote HCC development?

    Mention, Karine / Joncquel Chevalier Curt, Marie / Dessein, Anne-Frédérique / Douillard, Claire / Dobbelaere, Dries / Vamecq, Joseph

    Biochimie

    2021  Volume 190, Page(s) 20–23

    Abstract: Hepatocellular carcinoma (HCC) is a longstanding issue in clinical practice and metabolic research. New clues in better understanding the pathogenesis of HCC might relate to the metabolic context in patients with citrin (aspartate-glutamate carrier 1) ... ...

    Abstract Hepatocellular carcinoma (HCC) is a longstanding issue in clinical practice and metabolic research. New clues in better understanding the pathogenesis of HCC might relate to the metabolic context in patients with citrin (aspartate-glutamate carrier 1) deficiency (CD). Because citrin-deficient liver (CDL) is subject to HCC, it represents a unique metabolic model to highlight the mechanisms of HCC promotion, offering different angles of study than the classical metabolic syndrome/obesity/non-alcoholic fatty liver disease (NAFLD)/HCC study axis. In turn, the metabolic features of HCC could shed light on the pathogenesis of CDL. Among these, HCC-induced re-activation of aralar-1 (aspartate-glutamate carrier 2), physiologically not expressed in the adult liver, might take place in CDL, so gene redundancy for mitochondrial aspartate-glutamate carriers would be exploited by the CDL. This proposed (aralar-1 re-activation) and known (citrate/malate cycle) adaptive mechanisms may substitute for the impaired function in CD and are consistent with the clinical remission stage of CD and CD improvement by medium-chain triglycerides (MCT). However, these metabolic adaptive benefits could also promote HCC development. In CD, as a result of PPARα down-regulation, liver mitochondrial fatty acid-derived acetyl-CoA would, like glucose-derived acetyl-CoA, be used for lipid anabolism and fuel nuclear acetylation events which might trigger aralar-1 re-activation as seen in non-CD HCC. A brief account of these metabolic events which might lead to aralar-1 re-activation in CDL is here given. Consistency of this account for CDL events further relies on the protective roles of PPARα and inhibition of mitochondrial and plasma membrane citrate transporters in non-CD HCC.
    MeSH term(s) Acetyl Coenzyme A/metabolism ; Amino Acid Transport Systems, Acidic/metabolism ; Animals ; Antiporters/metabolism ; Calcium-Binding Proteins/deficiency ; Carcinoma, Hepatocellular/etiology ; Humans ; Liver Neoplasms/etiology ; Mitochondrial Membrane Transport Proteins/metabolism ; NAD/metabolism ; Organic Anion Transporters/deficiency ; Triglycerides/metabolism
    Chemical Substances Amino Acid Transport Systems, Acidic ; Antiporters ; Calcium-Binding Proteins ; Mitochondrial Membrane Transport Proteins ; Organic Anion Transporters ; SLC25A12 protein, human ; Triglycerides ; aspartate-glutamate carrier ; NAD (0U46U6E8UK) ; citrin (1340-08-5) ; Acetyl Coenzyme A (72-89-9)
    Language English
    Publishing date 2021-07-03
    Publishing country France
    Document type Journal Article ; Review
    ZDB-ID 120345-9
    ISSN 1638-6183 ; 0300-9084
    ISSN (online) 1638-6183
    ISSN 0300-9084
    DOI 10.1016/j.biochi.2021.06.018
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  5. Article ; Online: Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study.

    Grzych, Guillaume / Deheul, Sylvie / Gernez, Emeline / Davion, Jean-Baptiste / Dobbelaere, Dries / Carton, Louise / Kim, Isabelle / Guichard, Jean Claude / Girot, Marie / Humbert, Linda / Bennis, Anas / Joncquel, Marie / Chieux, Vincent / Joly, Audrey / Nasserdine, Phénicia / Trillot, Nathalie / Douillard, Claire / Pigny, Pascal / Tard, Céline

    Journal of neurology

    2023  Volume 270, Issue 4, Page(s) 2237–2245

    Abstract: Background: Recreational use of nitrous oxide (N: Methods: We retrospectively collected clinical and biological data from 52 patients with known, documented chronic N: Results: Plasma homocysteine was almost consistently increased in case of N: ... ...

    Abstract Background: Recreational use of nitrous oxide (N
    Methods: We retrospectively collected clinical and biological data from 52 patients with known, documented chronic N
    Results: Plasma homocysteine was almost consistently increased in case of N
    Conclusion: There is no specific marker of nitrous oxide abuse according to levels of consumption, total vitamin B12 decrease could not be used either as consumption or as severity marker. However, we showed that homocysteine is consistently increased and could be used as marker of recent N
    MeSH term(s) Humans ; Vitamin B 12 ; Nitrous Oxide/adverse effects ; Retrospective Studies ; Methylmalonic Acid ; Substance-Related Disorders/complications ; Biomarkers ; Vitamin B 12 Deficiency/chemically induced ; Vitamin B 12 Deficiency/diagnosis
    Chemical Substances Vitamin B 12 (P6YC3EG204) ; Nitrous Oxide (K50XQU1029) ; Methylmalonic Acid (8LL8S712J7) ; Biomarkers
    Language English
    Publishing date 2023-01-24
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-023-11570-z
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  6. Article ; Online: Biological markers and metabolic impact of chronic nitrous oxide consumption

    Grzych, Guillaume / Deheul, Sylvie / Davion, Jean-Baptiste / Lemonnier, Fanny / Dobbelaere, Dries / Carton, Louise / Kim, Isabelle / Guichard, Jean Claude / Girot, Marie / Humbert, Linda / Joly, Audrey / Douillard, Claire / Tard, Céline

    Annales de biologie clinique

    2022  Volume 80, Issue 3, Page(s) 209–212

    Title translation Marqueurs biologiques et impact métabolique de la consommation chronique de protoxyde d’azote
    MeSH term(s) Biomarkers ; Humans ; Nitrous Oxide/adverse effects ; Oxygen Consumption
    Chemical Substances Biomarkers ; Nitrous Oxide (K50XQU1029)
    Language French
    Publishing date 2022-07-07
    Publishing country France
    Document type Editorial
    ZDB-ID 418098-7
    ISSN 1950-6112 ; 0003-3898
    ISSN (online) 1950-6112
    ISSN 0003-3898
    DOI 10.1684/abc.2022.1729
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  7. Article: A novel

    Dessein, Anne-Frédérique / Hebbar, Eléonore / Vamecq, Joseph / Lebredonchel, Elodie / Devos, Aurore / Ghoumid, Jamal / Mention, Karine / Dobbelaere, Dries / Chevalier-Curt, Marie Joncquel / Fontaine, Monique / Defoort, Sabine / Smirnov, Vassily / Douillard, Claire / Dhaenens, Claire-Marie

    Molecular genetics and metabolism reports

    2022  Volume 31, Page(s) 100860

    Abstract: Background: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare inherited disease caused by pathogenic variants of : Methods: Clinical features were described with medical explorations including ophthalmic and cardiac examination. ...

    Abstract Background: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare inherited disease caused by pathogenic variants of
    Methods: Clinical features were described with medical explorations including ophthalmic and cardiac examination. Biological underlying defects were investigated by measurements of biochemical metabolites and by fluxomic studies of mitochondrial β-oxidation. Whole exome sequencing and molecular validation of variants confirmed the diagnosis.
    Results: The patient has developed at nine years an unlabeled maculopathy, and at 28 years, an acute cardiac decompensation without any premise. Blood individual acylcarnitine analysis showed a rise in hydroxylated long-chain fatty acids and fluxomic studies validated enzyme blockade consistent with LCHADD. Genetic analysis revealed the common p.(Glu510Gln) variant in
    Conclusion: This atypical LCHADD form report should encourage the early assessment of biochemical and genetic testing as a specific management is recommended (combination with fast avoidance, low fat-high carbohydrate diet, medium-even-chain triglycerides or triheptanoin supplementation).
    Language English
    Publishing date 2022-03-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2022.100860
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  8. Article ; Online: A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.

    Gardin, Antoine / Mussini, Charlotte / Héron, Bénédicte / Schiff, Manuel / Brassier, Anaïs / Dobbelaere, Dries / Broué, Pierre / Sevin, Caroline / Vanier, Marie T / Habes, Dalila / Jacquemin, Emmanuel / Gonzales, Emmanuel

    The Journal of pediatrics

    2022  Volume 254, Page(s) 75–82.e4

    Abstract: Objective: To describe the clinical features and course of liver involvement in a cohort of patients with Niemann-Pick type C disease (NP-C), a severe lysosomal storage disorder.: Study design: Patients with genetically confirmed NP-C (NPC1, n = 31; ... ...

    Abstract Objective: To describe the clinical features and course of liver involvement in a cohort of patients with Niemann-Pick type C disease (NP-C), a severe lysosomal storage disorder.
    Study design: Patients with genetically confirmed NP-C (NPC1, n = 31; NPC2, n = 3) and liver involvement before age 6 months were retrospectively included. Clinical, laboratory test, and imaging data were collected until the last follow-up or death; available liver biopsy specimens were studied using anti-CD68 immunostaining.
    Results: At initial evaluation (median age, 17 days of life), all patients had hepatomegaly, 33 had splenomegaly, and 30 had neonatal cholestasis. Portal hypertension and liver failure developed in 9 and 4 patients, respectively. Liver biopsy studies, performed in 16 patients, revealed significant fibrosis in all 16 and CD68
    Conclusions: Liver involvement in NP-C consisted of transient neonatal cholestasis with hepatosplenomegaly, was associated with liver fibrosis, and was responsible for death in 9% of patients. The combination of liver anti-CD68 immunostaining, serum alpha-fetoprotein measurement, and studies of plasma biomarkers should facilitate early identification of NP-C.
    MeSH term(s) Humans ; Infant ; Infant, Newborn ; alpha-Fetoproteins/analysis ; Cholestasis/etiology ; Hepatomegaly/etiology ; Hypertension, Portal/etiology ; Niemann-Pick Disease, Type C/blood ; Niemann-Pick Disease, Type C/complications ; Niemann-Pick Disease, Type C/diagnosis ; Niemann-Pick Disease, Type C/immunology ; Retrospective Studies ; Liver Diseases/diagnosis ; Liver Diseases/etiology ; Liver Diseases/immunology ; Liver Diseases/pathology ; Liver/immunology ; Liver/pathology ; Biopsy ; Liver Cirrhosis/etiology ; Biomarkers/blood ; Oxysterols/blood
    Chemical Substances alpha-Fetoproteins ; CD68 antigen, human ; Biomarkers ; Oxysterols
    Language English
    Publishing date 2022-10-17
    Publishing country United States
    Document type Multicenter Study ; Journal Article
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2022.10.015
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  9. Article: Opioid Facilitation of β-Adrenergic Blockade: A New Pharmacological Condition?

    Vamecq, Joseph / Mention-Mulliez, Karine / Leclerc, Francis / Dobbelaere, Dries

    Pharmaceuticals (Basel, Switzerland)

    2015  Volume 8, Issue 4, Page(s) 664–674

    Abstract: Recently, propranolol was suggested to prevent hyperlactatemia in a child with hypovolemic shock through β-adrenergic blockade. Though it is a known inhibitor of glycolysis, propranolol, outside this observation, has never been reported to fully protect ... ...

    Abstract Recently, propranolol was suggested to prevent hyperlactatemia in a child with hypovolemic shock through β-adrenergic blockade. Though it is a known inhibitor of glycolysis, propranolol, outside this observation, has never been reported to fully protect against lactate overproduction. On the other hand, literature evidence exists for a cross-talk between β-adrenergic receptors (protein targets of propranolol) and δ-opioid receptor. In this literature context, it is hypothesized here that anti-diarrheic racecadotril (a pro-drug of thiorphan, an inhibitor of enkephalinases), which, in the cited observation, was co-administered with propranolol, might have facilitated the β-blocker-driven inhibition of glycolysis and resulting lactate production. The opioid-facilitated β-adrenergic blockade would be essentially additivity or even synergism putatively existing between antagonism of β-adrenergic receptors and agonism of δ-opioid receptor in lowering cellular cAMP and dependent functions.
    Language English
    Publishing date 2015-09-25
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2193542-7
    ISSN 1424-8247
    ISSN 1424-8247
    DOI 10.3390/ph8040664
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  10. Article ; Online: Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

    Wicker, Camille / Roux, Charles-Joris / Goujon, Louise / de Feraudy, Yvan / Hully, Marie / Brassier, Anais / Bérat, Claire-Marine / Chemaly, Nicole / Wiedemann, Arnaud / Damaj, Lena / Abi-Warde, Marie-Thérèse / Dobbelaere, Dries / Roubertie, Agathe / Cano, Aline / Arion, Alina / Kaminska, Anna / Da Costa, Sabrina / Bruneel, Arnaud / Vuillaumier-Barrot, Sandrine /
    Boddaert, Nathalie / Pascreau, Tiffany / Borgel, Delphine / Kossorotoff, Manoelle / Harroche, Annie / de Lonlay, P

    Molecular genetics and metabolism

    2023  Volume 140, Issue 3, Page(s) 107674

    Abstract: Objectives: Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors (factor XI) and coagulation inhibitors (antithrombin, protein C and protein S) ... ...

    Abstract Objectives: Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors (factor XI) and coagulation inhibitors (antithrombin, protein C and protein S) deficiencies. The aim of the study was to correlate acute events to haemostasis and propose practical guidelines.
    Methods: In this multicentric retrospective study, we evaluated clinical, radiological, haemostasis and electroencephalography data for PMM2-CDG patients hospitalized for acute events. Cerebral events were classified as thrombosis, haemorrhage, SLE, or "stroke mimic" (SM: normal brain imaging or evoking a migraine).
    Results: Thirteen patients had a total of 31 acute episodes: 27 cerebral events with 7 SLEs, 4 venous thromboses, 4 haemorrhages (3 associated with thrombosis), 15 SMs at a mean age of 7.7 years; 4 non-cerebral thromboses, one of which included bleeding. A trigger was frequently involved (infection, head trauma). Although sometimes normal at baseline state, factor XI, antithrombin and protein C levels decreased during these episodes. No correlation between haemostasis anomalies and type of acute event was found.
    Discussion: Acute events in PMM2-CDG are not negligible and are associated with haemostasis anomalies. An emergency protocol is proposed for their prevention and treatment (https://www.filiere-g2m.fr/urgences). For cerebral events, brain Magnetic Resonance Imaging with perfusion weight imaging and diffusion sequences, electroencephalogram and haemostasis protein levels guide the treatment: anticoagulation, antithrombin or fresh frozen plasma supplementation, antiepileptic therapy. Preventing bleeding and thrombosis is required in cases of surgery, prolonged immobilization, hormone replacement therapy.
    Conclusion: Acute events in PMM2-CDG are associated with abnormal haemostasis, requiring practical guidance.
    MeSH term(s) Humans ; Child ; Protein C ; Retrospective Studies ; Factor XI ; Congenital Disorders of Glycosylation/pathology ; Thrombosis ; Stroke ; Phosphotransferases (Phosphomutases) ; Antithrombins ; Hemostasis ; Hemorrhage
    Chemical Substances Protein C ; Factor XI (9013-55-2) ; Phosphotransferases (Phosphomutases) (EC 5.4.2.-) ; Antithrombins
    Language English
    Publishing date 2023-07-31
    Publishing country United States
    Document type Multicenter Study ; Journal Article
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1016/j.ymgme.2023.107674
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