Urea cycle disorders: brain MRI and neurological outcome

Bireley, William R.; Hove, Johan L.K. Van; Gallagher, Renata C.; Fenton, Laura Z.

doi:10.1007/s00247-011-2253-6

Cited by 37 publications

(37 citation statements)

References 24 publications

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“…Hypercitrullinemia itself is possibly also neurotoxic by the inhibition of aerobic glucose 4 If this disorder is not recognized early and treated promptly, death may follow cerebral edema, elevated intracranial pressure, and herniation as in our patient. [1][2][3][4] There is no involvement of brainstem or role of excitatory effect of hypercitrullinemia.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3][4] There is no involvement of brainstem or role of excitatory effect of hypercitrullinemia. Neuropathology of hypercitrullinemia is associated with increased intracranial pressure that correlates with the severity of the neurological features 1 .…”

Section: Discussionmentioning

confidence: 99%

“…1,2 The diagnosis of citrullinemia is based on biochemical analysis of blood, plasma, and urine revealing increased levels of ammonia, citrulline, glutamine, and orotic acid as described in our patient. [1][2][3][4] A study of the EEG in affected infants may showed the burst-suppression pattern typical of neonatal hyperammonemia and a close correlation of the severity of the pattern on the EEG with both the degree of hyperammonemia and depression of level of consciousness. 3 Similarly, aEEG showed diffusely suppressed background activity in our patient (Figure 1b).…”

Section: Discussionmentioning

confidence: 99%

“…2 Severe hyperammonemia and hypercitrullinemia may lead to neurological deterioration in citrullinemia. 3,4 Hiccups are usually benign but is considered "persistent" if they last more than 48 hours up to one month; when they continue more than a month are considered "intractable" and can lead to complications. 5 Citrullinemia with an atypical presentation: persistent hiccups.…”

Section: Introductionmentioning

confidence: 99%

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Citrullinemia with an atypical presentation: persistent hiccups. Case report

2014

Arch Argent Pediat

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We report an infant who developed encephalopathy within the first 3 days of life. He had persistent hiccups that progressed to deep coma 72 hours after admission. The sepsis parameters and cerebrospinal fluid examination (CSF) were normal. The metabolic evaluation confirmed hyperammonemia, and hypercitrullinemia. The ratio of CSF/plasma glycine concentration was normal. This did not agree with our initial diagnosis of nonketotic hyperglycinemia where hiccups is present more often. Neonatal onset of argininosuccinic acid synthetase deficiency (ASD; citrullinemia) should be brought in mind in the differential diagnosis of encephalopathy in association with hiccups in the neonatal period suggesting inborn errors of metabolism.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Citrullinemia with an atypical presentation: persistent hiccups. Case report

2014

Arch Argent Pediat

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“…2 La hiperamoniemia y la hipercitrulinemia graves pueden producir un deterioro neurológico en la citrulinemia. 3,4 citrulinemia de presentación atípica: hipo persistente.…”

Section: Introductionunclassified

Citrulinemia de presentación atípica: hipo persistente. A propósito de un caso

et al. 2014

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Presentación de casos clínicos ResumenSe informa el caso de un neonato que desarrolló encefalopatía en el transcurso de los primeros tres días de vida. Presentaba hipo persistente, que evolucionó a coma profundo 72 horas después de la admisión al hospital. Los parámetros de septicemia y el análisis del líquido cefalorraquídeo (LCR) fueron normales. Tras la evaluación metabólica, se confirmó la presencia de hiperamoniemia e hipercitrulinemia. El índice de la concentración de LCR/glicina en plasma era normal. Esto no coincidió con nuestro diagnóstico inicial de hiperglicinemia no cetósica, que suele manifestarse con hipo. Se recomienda tener en cuenta la deficiencia de ácido argininosuccínico sintetasa (ASD por su sigla en inglés; citrulinemia) de inicio neonatal en el diagnóstico diferencial de encefalopatía asociada con hipo durante el período neonatal, lo que sugiere una enzimopatía congénita. Palabras clave: citrulinemia, hipo, neonato.

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Early metabolic characterization of brain tissues after whole body radiation based on gas chromatography–mass spectrometry in a rat model

Yao

Cao

et al. 2018

Biomedical Chromatography

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Radiation-induced brain injury involves acute, early delayed and late delayed damage based on the time-course and clinical manifestations. The acute symptoms are mostly transient and reversible, whereas the late delayed radiation-induced changes are progressive and irreversible. Therefore, evaluation of the organ-specific early response to ionizing radiation exposure is necessary for improving treatment strategies and minimizing possible damage at an early stage after radiation exposure. In the current study, the gas chromatography-mass spectrometry technique based on metabolomics coupled with metabolic correlation network was applied to investigate the early metabolic characterization of rat brain tissues following irradiation. Our findings showed that the metabolic response to irradiation was not just limited to the variations of individual metabolite levels, but also accompanied by alterations of network correlations among various metabolites. Metabolite clustering indicated that energy metabolism disorder and inflammation response were induced following radiation exposure. The correlation networks revealed that the strong positive correlations of differential metabolites were highly reduced and significant negative linkages were highlighted in irradiated groups even without statistical changes in metabolic levels. Our findings provided new insights into our understanding of the radiation-induced acute brain injury mechanism and clues as to the therapy target for clinical applications.

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Urea cycle disorders: brain MRI and neurological outcome

Abstract: The pattern and extent of brain MRI abnormalities correlate with clinical neurological outcome in our case series. This suggests that brain MRI abnormalities may assist in determining prognosis and helping clinicians with subsequent treatment decisions.

Cited by 37 publications

References 24 publications

Citrullinemia with an atypical presentation: persistent hiccups. Case report

Citrullinemia with an atypical presentation: persistent hiccups. Case report

Citrulinemia de presentación atípica: hipo persistente. A propósito de un caso

Early metabolic characterization of brain tissues after whole body radiation based on gas chromatography–mass spectrometry in a rat model

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