Inherited Metabolic Disorders and Stroke Part 2

Testai, Fernando D.; Gorelick, Philip B.

doi:10.1001/archneurol.2009.333

Cited by 103 publications

(31 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These infants may develop lethargy, poor feeding, and emesis on initiation of protein in their diet. 41 If unrecognized or untreated, accumulation of ammonia may cause cerebral edema, followed by coma and possibly death. Additionally, cases of severe hyperammonemia have been reported after the administration of valproic acid in pediatric populations.…”

Section: Current Status Of Drug Labeling and Pharmacogenomic Testing mentioning

confidence: 99%

Pharmacogenomic Testing for Neuropsychiatric Drugs: Current Status of Drug Labeling, Guidelines for Using Genetic Information, and Test Options

2014

View full text Add to dashboard Cite

Advancements in pharmacogenomics have introduced an increasing number of opportunities to bring personalized medicine into clinical practice. Understanding how and when to use this technology to help guide pharmacotherapy used to treat neuropsychiatric conditions remains a challenge for many clinicians. Currently, guidelines exist to assist clinicians in the use of genetic information for drug selection and/or dosing for the tricyclic antidepressants, carbamazepine, and phenytoin. Additional language in the product labeling suggests that genetic information may also be useful for assessing the starting and target doses, as well as drug interaction potential, for a number of other medications used to treat psychiatric and neurological conditions. In this review, we outline the current status of pharmacogenomic testing for neuropsychiatric drugs as it pertains to information contained in drug labeling, consensus guidelines, and test panels, as well as considerations related to obtaining tests for patients.

show abstract

Section: Current Status Of Drug Labeling and Pharmacogenomic Testing mentioning

confidence: 99%

Pharmacogenomic Testing for Neuropsychiatric Drugs: Current Status of Drug Labeling, Guidelines for Using Genetic Information, and Test Options

2014

View full text Add to dashboard Cite

show abstract

“…Inherited metabolic diseases such as mitochondrial encephalopathies, Fabrys disease, Menke's disease, organic academia, urea cycle defects and homocystinuia can result in acute focal neurological deficits and stroke-like episodes. In cases of radiological evidence of infarction that is not confined to a known vascular territory, metabolic causes may be a consideration 6 21 22) .…”

Section: Etiologies/risk Factorsmentioning

confidence: 99%

Pediatric Stroke

Jeong

Lim

Chae

2015

J Korean Neurosurg Soc

View full text Add to dashboard Cite

Pediatric stroke is relatively rare but may lead to significant morbidity and mortality. Along with the advance of brain imaging technology and clinical awareness, diagnosis of pediatric stroke is increasing wordwide. Pediatric stroke differs from adults in variable risk factor/etiologies, diverse and nonspecific clinical presentation depending on ages. This review will be discussed pediatric stroke focusing on their clinical presentations, diagnosis and etiologies/risk factors.

show abstract

“… 1 The prevalence of OTC deficiency is estimated to range from 1 in 40,000 to 1 in 80,000. 3 , 4 The phenotype of OTC deficiency is extremely heterogeneous. Patients with OTC deficiency usually present with poor feeding, vomiting, and respiratory alkalosis, and may progress to seizures, encephalopathy, and death.…”

mentioning

confidence: 99%

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia

Mohamed

Hamad

Kondkar

et al. 2015

SMJ

View full text Add to dashboard Cite

We report a 3-year-old Saudi boy with recurrent episodes of vomiting, poor feeding, and altered mental status accompanied by an intermittent mild hyperammonemia, and a large elevation of urinary orotic acid. Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous deletion at the fourth nucleotide of intron 4 (c.386+4delT) in the proband and his asymptomatic mother. This novel mutation in the OTC gene is responsible for the late-onset phenotype of OTC deficiency.

show abstract

Inherited Metabolic Disorders and Stroke Part 2

Cited by 103 publications

References 41 publications

Pharmacogenomic Testing for Neuropsychiatric Drugs: Current Status of Drug Labeling, Guidelines for Using Genetic Information, and Test Options

Pharmacogenomic Testing for Neuropsychiatric Drugs: Current Status of Drug Labeling, Guidelines for Using Genetic Information, and Test Options

Pediatric Stroke

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia

Contact Info

Product

Resources

About