Tandem mass spectrometry helped to clinch the diagnosis of CPT II Deficiency in the present case. [ncbi.nlm.nih.gov]

Marked symmetrical weakness of both arms and legs was confirmed during the neurological workup. She was unable to raise her legs and had difficulties abducting her shoulders. [medicalbag.com]

The question remains of whether the male predominance is due to sex-related differences in exercise activities, an X-chromosomal modifier gene, or hormonal factors such as estrogen that seem to be a regulator of CPT. 17, 18 Diagnostic workup of exercise-induced [jamanetwork.com]

Workup Laboratory Studies If the patient is suspected of having primary carnitine deficiency or other metabolic disorders associated with secondary carnitine deficiency and is presenting with a metabolic emergency, the following studies are indicated: [emedicine.medscape.com]

Workup of such patients includes measuring plasma amino acids and looking for succinylacetone on urine organic acid analysis. [genico.ch]

Certain treatments may be advised for some children but not others. When necessary, treatment is usually needed throughout life. The following are treatments sometimes recommended for babies and children with CPT-2 deficiency: 1. [newbornscreening.info]

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Heart Failure: Bench to Bedside presents a clear view of up-to-date approaches to clinical diagnosis and treatment, as well as offering insightful critiques of original and creative scientific thoughts on post-genomic HF research. [books.google.com]

The first line of treatment concentrates on providing a high carbohydrate and low fat diet, and methods to convert the toxic long chain fatty acids to harmless acylcarnitines. [cags.org.ae]

Treatment is primarily conservative for the infantile and the myopathic forms with high carbohydrate (70%) and low fat ( 2, 6, 8 ]. [ncbi.nlm.nih.gov]

Prognosis for the neonatal form is extremely poor. Survival does not exceed more than a few months at most. Bahrain Al-Arrayed (2006) indicated that CPTII occurs in Bahrain at an approximate incidence of 1/10,000 births. [cags.org.ae]

Prognosis The myopathic form of CPT II has a good prognosis. The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias. [orpha.net]

When diagnosed and treated AT BIRTH the prognosis for most of the FODs (i.e., MCAD etc) is excellent. Most can make adjustments to diet/meds when necessary during times of extra activity and illness and lead a full life. [fodsupport.org]

Even with treatment, the prognosis is very poor in these patients. Patients with the severe infantile form of CPT2 typically present within the first year of life. [invitae.com]

Etiology More than 60 mutations in the CPT2 gene, resulting in general in amino acid substitutions or small deletions, cause the CPT II deficiency. [orpha.net]

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Presence or absence of an anion gap (AG) can help to distinguish the underlying etiology. In general, with a pure or uncompensated metabolic acidosis, every 10 mEq/L fall in bicarbonate (HCO 3 ) results in an average pH fall of 0.15. [mhmedical.com]

The molecular etiologies of these syndromes have not been determined. In this investigation, we considered the hypothesis that these syndromes result from defective transport of carnitine into tissues, particularly skeletal muscle. [osti.gov]

Summary Epidemiology More than 300 CPT II cases have been described with the myopathic form being the most common (myopathic form: 86%, severe infantile form: 8%, neonatal form: 6% of cases). [orpha.net]

Cerevisiae, homolog of (FLAD1; FADS) ; Chromosome 1q21.3; Recessive Epidemiology: 9 patients Genetics Mutations: Biallelic, Frameshift, Missense or 1 amino acid deletion Mutation locations Molybdopterin binding (MPTb) domain, upstream of FADS domain: [neuromuscular.wustl.edu]

Am J Hum Genet 75:97–105 PubMedCentral PubMed CrossRef Google Scholar Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF (2004) The epidemiology of mitochondrial disorders – past, present and future. [link.springer.com]

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. Hum Mol Genet. 1999 Nov. 8(12):2247-54. [Medline]. [emedicine.medscape.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-chain fatty-acid oxidation. [mayomedicallaboratories.com]

The syndrome of rhabdomyolysis: Pathophysiology and diagnosis. Eur. J. Intern. Med. 2007, 18, 90–100. [ Google Scholar ] [ CrossRef ] [ PubMed ] Zutt, R.; van der Kooi, A.J.; Linthorst, G.E.; Wanders, R.J.; de Visser, M. [mdpi.com]

Simon E Olpin, Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability, Journal of Inherited Metabolic Disease, 36, 4, (645-658), (2013). [doi.org]

Pathophysiologic findings The CPT system mediates the transport of long-chain fatty acids into the mitochondrial matrix. [jamanetwork.com]

Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21). Biopharm Drug Dispos. 2012 Sep 5. [Medline]. Koizumi A, Nozaki J, Ohura T, et al. [emedicine.medscape.com]

More on Carnitine palmitoyltransferase II deficiency » Elbow flexion contracture : Summary A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow. 2 [familydiagnosis.com]

Muscle effects can include: muscle aches cramps weakness reddish-brown urine If muscle symptoms occur, prompt treatment is needed to prevent kidney damage. [newbornscreening.info]

From Wikidata Jump to navigation Jump to search lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria CPT-II infantile carnitine palmitoyltransferase II deficiency [wikidata.org]

Muscle effects can include: • muscle aches • cramps • weakness • reddish-brown urine If muscle symptoms occur, prompt treatment is needed to prevent kidney damage. [checkorphan.org]

As a preventative measure, glucose infusion may be necessary to prevent catabolism during infections, and frequent meals may help avoid low glucose levels and lipolysis. Reference Ameele J, Landegem W, Wuyts W, Bleeecker J. [medicalbag.com]