Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

Fraidakis, Matthew J.; Liadinioti, C.; Stefanis, Leonidas; Dinopoulos, Argyrios; Pons, Roser; Papathanassiou, Matilda; García-Villoria, Judit; Ribes, Antònia

doi:10.1007/8904_2014_353

Cited by 19 publications

(24 citation statements)

References 44 publications

(116 reference statements)

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“…The first report described a 19-yearold patient with headache, nystagmus, upward gaze palsy, fine motor disturbances and periventricular white matter T2 hyperintensity (Bahr et al 2002). In the following years, additional patients aged 8-71 years were published (Kulkens et al 2005;Fraidakis et al 2015;Pierson et al 2015;Boyetal2017a, b). A variety of non-specific general and neurologic symptoms, such as headaches, nausea, vertigo, nystagmus, dysarthria, hyper-or hypoactive tendon reflexes, muscular weakness, transient ataxia or fine motor deficits, were reported.…”

Section: Clinical Presentation and Long-term Complicationsmentioning

confidence: 99%

Organic acidurias in adults: late complications and management

Tuncel

Boy

Morath

et al. 2018

J of Inher Metab Disea

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Organic acidurias (synonym, organic acid disorders, OADs) are a heterogenous group of inherited metabolic diseases delineated with the implementation of gas chromatography/mass spectrometry in metabolic laboratories starting in the 1960s and 1970s. Biochemically, OADs are characterized by accumulation of mono-, di- and/or tricarboxylic acids ("organic acids") and corresponding coenzyme A, carnitine and/or glycine esters, some of which are considered toxic at high concentrations. Clinically, disease onset is variable, however, affected individuals may already present during the newborn period with life-threatening acute metabolic crises and acute multi-organ failure. Tandem mass spectrometry-based newborn screening programmes, in particular for isovaleric aciduria and glutaric aciduria type 1, have significantly reduced diagnostic delay. Dietary treatment with low protein intake or reduced intake of the precursor amino acid(s), carnitine supplementation, cofactor treatment (in responsive patients) and nonadsorbable antibiotics is commonly used for maintenance treatment. Emergency treatment options with high carbohydrate/glucose intake, pharmacological and extracorporeal detoxification of accumulating toxic metabolites for intensified therapy during threatening episodes exist. Diagnostic and therapeutic measures have improved survival and overall outcome in individuals with OADs. However, it has become increasingly evident that the manifestation of late disease complications cannot be reliably predicted and prevented. Conventional metabolic treatment often fails to prevent irreversible organ dysfunction with increasing age, even if patients are considered to be "metabolically stable". This has challenged our understanding of OADs and has elicited the discussion on optimized therapy, including (early) organ transplantation, and long-term care.

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Section: Clinical Presentation and Long-term Complicationsmentioning

confidence: 99%

Organic acidurias in adults: late complications and management

Tuncel

Boy

Morath

et al. 2018

J of Inher Metab Disea

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“…Flavin-containing monooxygenase converts trimethylamine into trimethylamine oxide through an oxidation reaction, which is associated with LPS-induced inflammation29. Deficiency of glutaryl-CoA dehydrogenase causes type I glutaric acidemia, usually triggered by childhood infection30. The annexins are Ca 2+ -dependent phospholipid-binding proteins involved in many cellular processes, whose overexpression were observed in patients infected with Helicobacter pylori and channel catfish infected with Edwardsiella ictaluri 3132.…”

Section: Discussionmentioning

confidence: 99%

Interactome of E. piscicida and grouper liver proteins reveals strategies of bacterial infection and host immune response

Zhu

Peng

et al. 2017

Sci Rep

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The occurrence of infectious diseases is related to heterogeneous protein interactions between a host and a microbe. Therefore, elucidating the host-pathogen interplay is essential. We previously revealed the protein interactome between Edwardsiella piscicida and fish gill cells, and the present study identified the protein interactome between E. piscicida and E. drummondhayi liver cells. E. drummondhayi liver cells and bacterial pull-down approaches were used to identify E. piscicida outer membrane proteins that bind to liver cells and fish liver cell proteins that interact with bacterial cells, respectively. Eight bacterial proteins and 11 fish proteins were characterized. Heterogeneous protein-protein interactions between these bacterial cells and fish liver cells were investigated through far-Western blotting and co-immunoprecipitation. A network was constructed based on 42 heterogeneous protein-protein interactions between seven bacterial proteins and 10 fish proteins. A comparison of the new interactome with the previously reported interactome showed that four bacterial proteins overlapped, whereas all of the identified fish proteins were new, suggesting a difference between bacterial tricks for evading host immunity and the host strategy for combating bacterial infection. Furthermore, these bacterial proteins were found to regulate the expression of host innate immune-related proteins. These findings indicate that the interactome contributes to bacterial infection and host immunity.

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“…There may also be acute neuroregression and extrapyramidal symptoms following an initial phase of normal or almost normal development by striatal necrosis with stroke like characteristics. As the disease exhibits a slow progression, late onset presentations or asymptomatic cases in elderly ages were rarely reported (Fraidakis et al 2014;Wang et al 2014). Our case is compatible with typical age of presentation with 9 months of age, he was the first child of the family with consanguineous marriage and presented with stroke associated seizure during an acute gastroenteritis.…”

Section: Discussionmentioning

confidence: 99%

“…As for the discourse of onset, late, slowly progressive and insidious onset of cases have been defined (Fraidakis et al 2014). Affected patients often present with dystonia and extrapyramidal symptoms such as athetosis, seizures, and intellectual disability.…”

Section: Introductionmentioning

confidence: 99%