Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds

Haworth, J. C.; Booth, Frances A.; Chudley, Albert E.; Degroot, Gaetan-Nagim; Dilling, Louise A.; Goodman, Stephen I.; Greenberg, Cheryl R.; Mallory, C.; McClarty, Blake; Seargeant, L.E.

doi:10.1016/s0022-3476(05)81843-8

Cited by 129 publications

(81 citation statements)

References 20 publications

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“…Six small case series (i.e., class IV studies) describe 30 children who ultimately developed what appeared to be dyskinetic CP due to glutaric aciduria (type 1). [25][26][27][28][29][30] These children typically develop normally until 5 to 10 months of age when they suffer an acute encephalopathy manifested by coma that is followed by dystonia, motor impairment, and macrocephaly (in about 60%). 25 Distinctive MRI and CT findings occur in half the patients and are manifested by frontal and temporal atrophy.…”

Section: Metabolic and Genetic Testing Should Metabolic Or Genetic Tmentioning

confidence: 99%

Practice Parameter: Diagnostic assessment of the child with cerebral palsy [RETIRED]

Ashwal¹,

Russman²,

Blasco³

et al. 2004

Neurology

526

327

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Abstract-Objective:The Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society develop practice parameters as strategies for patient management based on analysis of evidence. For this parameter the authors reviewed available evidence on the assessment of a child suspected of having cerebral palsy (CP), a nonprogressive disorder of posture or movement due to a lesion of the developing brain. Methods: Relevant literature was reviewed, abstracted, and classified. Recommendations were based on a four-tiered scheme of evidence classification. Results: CP is a common problem, occurring in about 2 to 2.5 per 1,000 live births. In order to establish that a brain abnormality exists in children with CP that may, in turn, suggest an etiology and prognosis, neuroimaging is recommended with MRI preferred to CT (Level A). Metabolic and genetic studies should not be routinely obtained in the evaluation of the child with CP (Level B). If the clinical history or findings on neuroimaging do not determine a specific structural abnormality or if there are additional and atypical features in the history or clinical examination, metabolic and genetic testing should be considered (Level C). Detection of a brain malformation in a child with CP warrants consideration of an underlying genetic or metabolic etiology. Because the incidence of cerebral infarction is high in children with hemiplegic CP, diagnostic testing for coagulation disorders should be considered (Level B). However, there is insufficient evidence at present to be precise as to what studies should be ordered. An EEG is not recommended unless there are features suggestive of epilepsy or a specific epileptic syndrome (Level A). Because children with CP may have associated deficits of mental retardation, ophthalmologic and hearing impairments, speech and language disorders, and oral-motor dysfunction, screening for these conditions should be part of the initial assessment (Level A). Conclusions: Neuroimaging results in children with CP are commonly abnormal and may help determine the etiology. Screening for associated conditions is warranted as part of the initial evaluation. NEUROLOGY 2004;62:851-863 Cerebral palsy (CP) can be defined as a disorder of aberrant control of movement and posture, appearing early in life secondary to a CNS lesion or dysfunction that is not the result of a recognized progressive or degenerative brain disease.1 The brain abnormality may occur pre-, peri-, or postnatally. The diagnosis of CP always involves a motor deficit and the usual presenting complaint for which medical evaluation is sought is that the child is not reaching motor milestones at the appropriate chronological age. In most

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Section: Metabolic and Genetic Testing Should Metabolic Or Genetic Tmentioning

confidence: 99%

Practice Parameter: Diagnostic assessment of the child with cerebral palsy [RETIRED]

Ashwal¹,

Russman²,

Blasco³

et al. 2004

Neurology

526

327

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“…A manifestação clínica dos diferentes erros inatos do metabolismo que afetam o sistema nervoso central é variável, e um único distúrbio metabólico também pode determinar o aparecimento de sintomas e sinais extremamente distintos 2,[6][7][8] . Avaliamos seis pacientes, em 4 famílias, com diagnóstico de AGI evidenciando grande variabilidade clínica, sendo que três pacientes apresentaram descompensação aguda, interpretada como encefalite, evoluindo com atraso do desenvolvimento, quadriplegia espástica e movimentos involuntários; outra criança evoluiu com desenvolvimento intelectual adequado, notando-se a presença de tremores de extremidades e no segmento cefálico; um paciente, inicialmente com diagnóstico de hidrocefalia externa, foi submetido a derivação ventrículo-peritoneal, evoluiu com distúrbio motor e deficiência mental.…”

Section: Discussionunclassified

“…Um dos pacientes, atualmente com 22 anos, está assintomático, tendo somente apresentado crises convulsivas quando lactente. A literatura refere apenas 5 pacientes com mais de 6 anos de idade, assintomáticos e que não foram submetidos a tratamento 2,3,8 . Caracteristicamente os seis pacientes apresentaram macrocrania, desde o período neonatal 2,9 .…”

Section: Discussionunclassified

Acidúria glutárica tipo 1: variabilidade fenotípica. Estudo de seis pacientes

Casella

Bresolin

Valente

et al. 1998

Arq. Neuro-Psiquiatr.

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RESUMO -Estudamos seis pacientes com acidúria glutárica tipo I, em quatro famílias. Observamos variações intensas na apresentação clínica, mesmo entre elementos da mesma família. Três pacientes evoluiram sem alterações até o início das anomalias neurológicas, que se manifestaram como encefalite-símile, no primeiro ano de vida. Uma criança apresentou atraso precoce do desenvolvimento, sem episódios agudos de descompensação. Dois pacientes não têm alteração cognitiva; um deles apresenta leve tremor associado a quadro coreoatetóide desde o primeiro ano de vida, enquanto o outro teve apenas duas crises convulsivas afebris quando lactente. Três crianças apresentam distonia como sequela, não sendo capazes de sentar ou firmar a cabeça. Os seis pacientes apresentam macrocrania e a neles tomografia computatorizada de crânio demonstra aumento dos espaços liquóricos em regiões fronto-temporais. O estudo dos ácidos orgânicos urinários dos pacientes demonstra elevação dos níveis do ácido glutárico. PALAVRAS-CHAVE: acidúria glutárica tipo I, macrocrania, variabilidade fenotípica. Glutaric aciduria type I: phenotypic variability. Report of six patientsABSTRACT -We report six patients with glutaric aciduria type 1 in four families. The patients had marked clinical variability, even within families. Three of the patients studied were normal untill the onset of neurologic abnormalities, that presented as an encephalitis-like illness in the first year of age. One patient had an early and important developmental delay, but never suffered an encephalopathic crisis. Two patients have intellectual preservation; one of them has a mild tremor and choreoathetosis since the first year of age, and the other had only two afebrile seizures in infancy and no other neurologic signs. Three patiens are severely handicapped, with a severe dystonic-dyskinetic disorder and unable to even sit. All the six patients have macrocephaly and in all the computed tomography showed enlarged CSF spaces and sulcal separation over the frontal and temporal lobes. Urine organic acids study of all patients showed large quantities of glutaric acid.KEY WORDS: glutaric aciduria type 1, macrocephaly, phenotypic variability.A acidúria glutárica tipo 1(AGI), descrita pela primeira vez em 1975, é um distúrbio do metabolismo da lisina, hidroxilisina e triptofano causado pela deficiência da glutaril-CoA

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“…Dans tous les cas détectés à ce jour, la mutation provoque la substitution d'un acide aminé (R565W) dans la protéine cirhin, produit du locus CIRH1A. < [7][8][9][10]. Nous avons donc choisi la stratégie qui consiste à mettre en commun (pooling) les ADN pour cartographier le locus.…”

Section: L'examen Cliniqueunclassified

La cirrhose amérindienne infantile

2007

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Bien que le site d'expression et quelques faits concernant les rôles possibles de cirhin soient maintenant connus, nous ne possédons toujours aucune hypothèse physiopathologique liant la protéine cirhin à l'étiologie de la maladie. Quoi qu'il en soit, nous pouvons espérer que la poursuite de la collaboration entre les familles des patients, les cliniciens et les chercheurs, qui a mené à la détection du gène et à la mise au point d'un test de dépistage, pourra conduire à la découverte d'un traitement pour cette maladie qui affecte les autochtones du Nord-Ouest québécois. Nous rappelons ici les étapes de nos travaux sur la cirrhose amérindienne infantile, maladie héréditaire qui n'a été décrite qu'au Québec [1-6]. L'observation cliniqueDepuis 1970, nous avons suivi 36 enfants dont les seuls traits communs étaient leur origine amérindienne et la cirrhose de type biliaire dont ils seront inéluctablement victimes. La survenue de la maladie chez plusieurs enfants de la même famille, mais jamais chez leurs parents, a orienté notre diagnostic vers une maladie héréditaire de type autosomique récessif. L'enquête familiale a permis de préciser que ces enfants appartenaient à 5 grandes familles et à 3 communautés des Premières Nations habitant au Nord-Ouest du Québec. Ils sont tous d'origine Odjibway-Cree [3,4]. L'évolution clinique de ces enfants est résumée dans la Figure 1. On compte une prédominance de garçons ; en outre, aucune caractéristique phénotypique n'a été relevée en dehors de la cirrhose. Il s'agit d'une maladie hépatique très sévère dont le taux de survie à l'âge adulte est inférieur à 50 %. La transplantation hépa-tique (TH) représente actuellement la seule solution thérapeutique. La maladie n'a pas resurgi dans les foies des 12 patients transplantés. De façon caractéristique, la cholestase néonatale se manifeste, dès les premiers jours de vie, par un ictère. Celui-ci disparaît après quelques semaines pour réapparaître progressivement quand la fonction hépatique se détériore. La complication majeure se manifeste par une hypertension portale très précoce avec hémorragie digestive par rupture de varices oesophagiennes dès l'âge de 8 mois [3,4].

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Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds

Cited by 129 publications

References 20 publications

Practice Parameter: Diagnostic assessment of the child with cerebral palsy [RETIRED]

Practice Parameter: Diagnostic assessment of the child with cerebral palsy [RETIRED]

Acidúria glutárica tipo 1: variabilidade fenotípica. Estudo de seis pacientes

La cirrhose amérindienne infantile

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