Relative Carnitine Deficiency in Autism

Filipek, Pauline A.; Juranek, Jenifer; Nguyen, Minh Tuan; Cummings, Christa; Gargus, J. Jay

doi:10.1007/s10803-004-5283-1

Cited by 170 publications

(127 citation statements)

References 40 publications

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“…60 There have also been a few isolated reports of a mitochondrial and/or metabolic abnormality (eg, carnitine deficiency) being associated with an ASD, but the significance of these reports is not clear. 133 Increased and decreased levels of T lymphocytes, immunoglobulins, and antibrain autoantibodies in the systemic circulation have been reported. 134 These have been observed chiefly in retrospective case studies of patients with idiopathic ASDs, but systematic prospective studies have confirmed neither their existence nor their relevance.…”

Section: Table 2 Diagnostic Criteria For 29980: Asperger's Disorder mentioning

confidence: 99%

Identification and Evaluation of Children With Autism Spectrum Disorders

Johnson

Myers²

2007

Pediatrics

1,677

1,038

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Autism spectrum disorders are not rare; many primary care pediatricians care for several children with autism spectrum disorders. Pediatricians play an important role in early recognition of autism spectrum disorders, because they usually are the first point of contact for parents. Parents are now much more aware of the early signs of autism spectrum disorders because of frequent coverage in the media; if their child demonstrates any of the published signs, they will most likely raise their concerns to their child's pediatrician. It is important that pediatricians be able to recognize the signs and symptoms of autism spectrum disorders and have a strategy for assessing them systematically. Pediatricians also must be aware of local resources that can assist in making a definitive diagnosis of, and in managing, autism spectrum disorders. The pediatrician must be familiar with developmental, educational, and community resources as well as medical subspecialty clinics. This clinical report is 1 of 2 documents that replace the original American Academy of Pediatrics policy statement and technical report published in 2001. This report addresses background information, including definition, history, epidemiology, diagnostic criteria, early signs, neuropathologic aspects, and etiologic possibilities in autism spectrum disorders. In addition, this report provides an algorithm to help the pediatrician develop a strategy for early identification of children with autism spectrum disorders. The accompanying clinical report addresses the management of children with autism spectrum disorders and follows this report on page 1162 [available at www.pediatrics.org/cgi/content/full/120/5/1162]. Both clinical reports are complemented by the toolkit titled “Autism: Caring for Children With Autism Spectrum Disorders: A Resource Toolkit for Clinicians,” which contains screening and surveillance tools, practical forms, tables, and parent handouts to assist the pediatrician in the identification, evaluation, and management of autism spectrum disorders in children.

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Section: Table 2 Diagnostic Criteria For 29980: Asperger's Disorder mentioning

confidence: 99%

Identification and Evaluation of Children With Autism Spectrum Disorders

Johnson

Myers²

2007

Pediatrics

1,677

1,038

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“…Carnitine deficiency has been noted in mitochondrial disease, fatty acid oxidation defects, and valproic acid treatment. 117 A retrospective chart review of carnitine levels in children with ASD identified lower carnitine levels and higher alanine and ammonia levels, compared with the laboratory reference range mean, 117 although these children did not have clinical signs of mitochondrial disease. No studies have evaluated treatment effects of carnitine.…”

Section: Biologically Based Practicesmentioning

confidence: 99%

Complementary and Alternative Medicine in Autism: An Evidence-Based Approach to Negotiating Safe and Efficacious Interventions with Families

2010

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Summary: This review focuses on helping clinicians identify resources and develop strategies they may use to effectively negotiate safe and effective use of complementary and alternative medicine (CAM) treatments with families of children with autism spectrum disorders (ASD), as well as other neurodevelopmental disorders. Since new types of CAM continue to be introduced into the autism community, emphasis is placed on providing clinicians with tools to help families negotiate the myriad of available treatments and make decisions based on current safety and efficacy data, while remaining mindful of the reasons families may be considering these treatments.We familiarize readers with high-quality, evidence-based resources that providers and families may use to ascertain current information about specific types of CAM, verify the content of biologically-based treatments, identify ongoing CAM research and obtain toolkits designed to help healthcare providers raise the topic of CAM usage and facilitate disclosure and discussion of CAM use with patients and their families. Key Words: Complementary and alternative medicine, autism, integrative medicine, gluten-free casein-free diet, melatonin, chelation, hyperbaric oxygen treatment, evidence-based medicine.

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“…In several studies of individuals presenting with autism, but without classical mitochondrial disease, increased ammonia has also been described; this led some authors to conclude that MtD was present [40,63,64] . Typically, these ammonia levels are not nearly as elevated as those that have been observed in some conditions that can cause autism, such as urea cycle disorders [66] .…”

Section: Biomarkers Of Classical Mitochondrial Disease and Mtd In Autmentioning

confidence: 99%

“…However, many of these laboratory abnormalities have also been described in autistic individuals with MtD and without any other evidence of classical mitochondrial disease. For example, elevated blood lactate levels consistent with MtD have been described in numerous autistic individuals [29,40,[61][62][63][64][65] , sometimes affecting as many as 43% of children with autism studied when compared to neurotypical children [17] . In one study, ASD children with an elevated blood lactate level underwent deltoid muscle biopsy and approximately 35% (5 out of 14) were found to have classical mitochondrial disease [22] .…”

Section: Biomarkers Of Classical Mitochondrial Disease and Mtd In Autmentioning

confidence: 99%

Evidence of Mitochondrial Dysfunction in Autism and Implications for Treatment

Rossignol¹,

Bradstreet²

2008

American J. of Biochemistry and Biotechnology

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Classical mitochondrial diseases occur in a subset of individuals with autism and are usually caused by genetic anomalies or mitochondrial respiratory pathway deficits. However, in many cases of autism, there is evidence of mitochondrial dysfunction (MtD) without the classic features associated with mitochondrial disease. MtD appears to be more common in autism and presents with less severe signs and symptoms. It is not associated with discernable mitochondrial pathology in muscle biopsy specimens despite objective evidence of lowered mitochondrial functioning. Exposure to environmental toxins is the likely etiology for MtD in autism. This dysfunction then contributes to a number of diagnostic symptoms and comorbidities observed in autism including: cognitive impairment, language deficits, abnormal energy metabolism, chronic gastrointestinal problems, abnormalities in fatty acid oxidation, and increased oxidative stress. MtD and oxidative stress may also explain the high male to female ratio found in autism due to increased male vulnerability to these dysfunctions. Biomarkers for mitochondrial dysfunction have been identified, but seem widely under-utilized despite available therapeutic interventions. Nutritional supplementation to decrease oxidative stress along with factors to improve reduced glutathione, as well as hyperbaric oxygen therapy (HBOT) represent supported and rationale approaches. The underlying pathophysiology and autistic symptoms of affected individuals would be expected to either improve or cease worsening once effective treatment for MtD is implemented.

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Relative Carnitine Deficiency in Autism

Cited by 170 publications

References 40 publications

Identification and Evaluation of Children With Autism Spectrum Disorders

Identification and Evaluation of Children With Autism Spectrum Disorders

Complementary and Alternative Medicine in Autism: An Evidence-Based Approach to Negotiating Safe and Efficacious Interventions with Families

Evidence of Mitochondrial Dysfunction in Autism and Implications for Treatment

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