Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto; Sykut-Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiří; Dionisi‐Vici, Carlo; Barić, Ivo; Arnoux, Jean Baptiste; Avram, Paula; Baumgartner, Matthias R.; Blasco‐Alonso, Javier; Boy, S.; Rasmussen, Malene B; Burgard, Peter; Chabrol, B.; Chakrapani, Anupam; Saladelafont, Elisenda Cortès i; Couce, María L.; Meırleır, Linda De; Dobbelaere, Dries; Furlan, Francesca; Gleich, Florian; González, Marı́a Julieta; Gradowska, Wanda; Grünewald, Stéphanie; Honzík, Tomáš; Hörster, Friederike; Ioannou, Hariklea; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Langereis, Eveline J.; Lonlay, Pascale de; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; Murphy, Elaine; Baulny, Hélène Ogier de; Ortez, Carlos; Pedron, Caio César; Pintos-Morell, Guillem; Peña-Quintana, Luis; Ramadža, Danijela Petković; Rodrigues, Esmeralda; Scholl‐Bürgi, Sabine; Sokal, Étienne; Summar, Marshall; Thompson, NP; Vara, Roshni; Piñera, Inmaculada Vives; Walter, John H.; Williams, Monique; Lund, Allan M.; Cazorla, Angeles Garcia

doi:10.1007/s10545-015-9868-y

Cited by 4 publications

(3 citation statements)

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“…Data from the European registry of UCD show that highest frequency of liver disease is present in ASL and OTC deficiency among all UCD [13]. A recent study confirmed that neonatal histopathological changes in hepatic involvement of UCD are nonspecific, whereas older patients develop variable hepatic fibrosis and focal changes resembling glycogen storage disorder and cirrhosis [14].…”

Section: Discussionmentioning

confidence: 99%

Coagulation Disturbances in Patients with Argininemia

et al. 2018

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Background: Argininemia is an autosomal recessive urea cycle disorder (UCD). Unlike other UCD, hyperammonemia is rarely seen. Patients usually present in childhood with neurological symptoms. Uncommon presentations like neonatal cholestasis or cirrhosis have been reported. Although transient elevations of liver transaminases and coagulopathy have been reported during hyperammonemia episodes, a permanent coagulopathy has never been reported. Methods: In this retrospective study, coagulation disturbances are examined in 6 argininemia patients. All of the patients were routinely followed up for hepatic involvement due to argininemia. Laboratory results, including liver transaminases, albumin, prothrombin time (PT), international normalized ratio (INR), activated partial thromboplastin time (aPTT), and clotting factor levels, were assessed in all of the patients. Results: All of the patients had a prolonged PT and an increased INR, while none of the patients had a prolonged aPTT. Five patients had slightly elevated liver transaminases. A liver biopsy was performed in 1 patient but neither cirrhosis nor cholestasis was documented. Five of the 6 patients had low factor VII and factor IX levels, while other clotting factors were normal. Conclusions: Argininemia patients should be investigated for coagulation disorders even if there is no apparent liver dysfunction or major bleeding symptoms.

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Section: Discussionmentioning

confidence: 99%

Coagulation Disturbances in Patients with Argininemia

et al. 2018

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“…1 Neurological complications include acute encephalopathic crises, stroke-like episodes, developmental delay, intellectual disability, psychiatric disease, motor dysfunction, epilepsy, and optic neuropathy. 1,2,[4][5][6] Basal ganglia, the brain region with higher metabolic and energy demands, are particularly vulnerable and are characteristically involved in patients with methylmalonic aciduria. 2 Progressive neurological damage may also develop in the form of cerebral or cerebellar atrophy and white matter disease, with or without basal ganglia lesions.…”

Section: Introductionmentioning

confidence: 99%

“…However, the standard therapeutic strategies, which rely on dietary natural protein restriction supplemented with non‐offending amino acids mixtures, carnitine therapy, and intensified emergency regimens during catabolic episodes, are only partially effective in preventing neurological disease progression and selective organ damage 1 . Neurological complications include acute encephalopathic crises, stroke‐like episodes, developmental delay, intellectual disability, psychiatric disease, motor dysfunction, epilepsy, and optic neuropathy 1,2,4–6 . Basal ganglia, the brain region with higher metabolic and energy demands, are particularly vulnerable and are characteristically involved in patients with methylmalonic aciduria 2 .…”

Section: Introductionmentioning

confidence: 99%

Neurologic outcome following liver transplantation for methylmalonic aciduria

Martinelli

Catesini

Greco

et al. 2023

J of Inher Metab Disea

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Liver and liver/kidney transplantation are increasingly used in methylmalonic aciduria, but little is known on their impact on CNS. The effect of transplantation on neurological outcome was prospectively assessed in six patients preand post-transplant by clinical evaluation and by measuring disease biomarkers in plasma and CSF, in combination with psychometric tests and brain MRI studies. Primary (methylmalonic-and methylcitric acid) and secondary biomarkers (glycine and glutamine) significantly improved in plasma, while they remained unchanged in CSF. Differently, biomarkers of mitochondrial dysfunction (lactate, alanine, and related ratios) significantly decreased in CSF. Neurocognitive evaluation documented significant higher post-transplant developmental/cognitive scores and maturation of executive functions corresponding to improvement of brain atrophy, cortical thickness, and white matter maturation indexes at MRI. Three patients presented post-transplantation reversible neurological events, which were differentiated, by means of

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