Glutaric Acidemia Type 1: A Case of Infantile Stroke

Özçora, Gül Demet Kaya; Gökay, Songül; Canpolat, Mehmet; Kardaş, Fatih; Kendirci, Mustafa; Kumandaş, Sefer

doi:10.1007/8904_2017_26

Cited by 5 publications

(6 citation statements)

References 21 publications

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“…The majority of inborn errors of metabolism cause brain injury. Metabolic stroke and SLEs are manifestations of these injuries (15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(36)(37)(38)(39)(40)(41)(42). The most common inborn errors of metabolism that potentially predispose patients to metabolic stroke are outlined in Table 2.…”

Section: Other Inherited Metabolic Diseases and Strokementioning

confidence: 99%

Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management

et al. 2021

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A stroke should be considered in cases of neurologic decompensation associated with inherited metabolic disorders. A resultant stroke could be a classical ischemic stroke (vascular stroke) or more commonly a “metabolic stroke.” A metabolic stroke begins with metabolic dysfunctions, usually caused by a stressor, and leads to the rapid onset of prolonged central neurological deficits in the absence of vessel occlusion or rupture. The cardinal features of a metabolic stroke are stroke-like episodes without the confirmation of ischemia in the typical vascular territories, such as that seen in classic thrombotic or embolic strokes. Identifying the underlying cause of a metabolic stroke is essential for prompt and appropriate treatment. This study reviews the major inherited metabolic disorders that predispose patients to pediatric stroke, with an emphasis on the underlying mechanisms, types, and management.

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Section: Other Inherited Metabolic Diseases and Strokementioning

confidence: 99%

Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management

et al. 2021

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“…Glutaric acidemia type 1 affects around the world, about 1 in every 100,000 children, macrocephaly is an important feature, is present in about 75% of cases and may already be present at birth, which shows intrauterine expression. Clinical manifestations appear until the second year of life and present in an acute or chronic form [3,6,7]. www.jcimcr.org Page 2 Table 2 shows the measurement of the head circumference of the cases presented.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…The disease affects about 1 per 100,000 individuals, has an autosomal recessive inheritance and the GCDH gene, located in 19p13.2, is related to this acidemia [2,6].…”

Section: Introductionmentioning

confidence: 99%

Neurological manifestations in glutaric acidemia type 1 and the impact of expanded neonatal screening in Brazil

Borges¹,

Garcia²

2021

J Clin Images Med Case Rep

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Glutaric acidemia type 1 (GA1) is an inborn error of metabolism caused by the deficiency of the enzyme glutaryl-CoA dehydrogenase, with consequent accumulation of the aminoacids lysine, hydroxylsine and tryptophan. About 1 in every 100,000 individuals are affected by the disease. Neurological manifestations are variable and include acute and chronic encephalopathic crises, dystonia, motor and cognitive deficits, as well as neuroimaging findings such as brain hypoplasia, striatal, white matter and subdural effusions. Early diagnosis is crucial for specific therapy, which includes a diet with restricted amino acids and carnitine replacement. The present work describes the variability of neurological manifestations in four patients with glutaric acidemia type 1, diagnosed in different age groups, through mass spectrometry, technology of the expanded neonatal screening available in the Ministry of Health program in Federal District, Brazil. Complications of GA1 were more severe in cases with later diagnosis, which justifies the use of the enlarged neonatal screening as an important resource in the early diagnosis and treatment of inborn errors of metabolism.

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“…5 Kaya Ozcora et al reported infantile stroke in a 9-month-old child with GA1. 27 Badve et al reported a 32-year-old female patient with GA1, who presented with migraine and a bipolar disorder with frontal lobe dysfunction and bilateral pyramidal tract signs. 28 Young-Lin et al reported a 7-month-old male infant with GA1, who presented with flexor spasms, video electroencephalography revealed hypsarrhythmia and the child improved with prednisolone.…”

Section: Rare Complicationsmentioning

confidence: 99%

Glutaric Aciduria Type 1: A Case Report and Review of Literature

Sanju¹,

Tullu²,

Seshadri³

et al. 2020

J Pediatr Intensive Care

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An 8-month-old male infant patient was referred to our institution (from elsewhere) with a history of fever, convulsions, dystonic posturing, altered sensorium, and loss of motor and mental milestones since past 1 month. Upon admission to our institution, a neuroimaging (magnetic resonance imaging of the brain) revealed frontoparietal atrophy, “bat-wing appearance,” and basal ganglia changes. Carnitine and acylcarnitine profile revealed low total carnitine, very low free carnitine, and low free/acylcarnitine ratio, with normal levels of plasma amino acids. Urine gas chromatography mass spectrometry showed an elevated level of ketones (3-hydroxybutyric acid and acetoacetate) and glutaric acid with the presence of 3-hydroxyglutaric acid, suggestive of glutaric aciduria type 1. Diet modification and pharmacotherapy with riboflavin and carnitine arrested the neurological deterioration in the patient.

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Glutaric Acidemia Type 1: A Case of Infantile Stroke

Cited by 5 publications

References 21 publications

Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management

Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management

Neurological manifestations in glutaric acidemia type 1 and the impact of expanded neonatal screening in Brazil

Glutaric Aciduria Type 1: A Case Report and Review of Literature

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