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Late-Onset Carnitine Palmitoyl Transferase II Deficiency

CPT2


Presentation

  • CPT II deficiency has several clinical presentations: the adult form is characterized by episodes of rhabdomyolysis, usually triggered by extensive exercice, cold, fever or prolonged fasting and the infantile-type CPT II hepatocardiomuscular form presents[repositorio.insa.pt]
  • This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.[books.google.com]
  • In some cases, severe myalgias with rhabdomyolysis and renal failure can be the presenting symptom of fatty acid oxidation disease.[flipper.diff.org]
  • Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. Hum Metab, 21: 493-501. Nelson DL and Cox MM (2005).[en.wikipedia.org]
  • Get a quick and memorable overview of anatomy, pathophysiology, and clinical presentation from the precision and beauty of Netter and Netter-style plates that highlight key neuroanatomical and neurologic concepts.[books.google.com]
Fatigue
  • Muscle pain and fatigue are frequent complaints. CPT II is located on the inner mitochondrial membrane and is essential for the transport of long-chain fatty acids into mitochondria.[flipper.diff.org]
  • Fatigue and sleep disturbance are frequently associated with EDS hypermobility type and affected individuals are often diagnosed with chronic fatigue syndrome, fibromyalgia, depression, hypochondriasis, and/or malingering prior to recognition of joint[bredagenetics.com]
  • The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Menkes Disease July 9, 2018 by Peter[checkrare.com]
  • For example, the symptoms of CPT-II deficiency are sometimes initially diagnosed as fibromyalgia or chronic fatigue syndrome.[encyclopedia.com]
  • Late-onset mitochondrial myopathies feature proximal muscle weakness, easy fatigueability, and variably elevated CK levels. Lactic acidemia is often absent.[the-rheumatologist.org]
Chills
  • So cold, in fact, that when I needed to use the restroom, I waited until the heater fan turned off because the breeze from the heater was too chilling. At this point, my muscles still felt completely fine.[cpt2.me]
Crying
  • Waking to a Whimper: Around 4 am, intense pain in my upper arms and shoulders woke me and I started to cry out in pain. I remember it as whimpering, but my wife is pretty clear that it was something between crying out and crying.[cpt2.me]
Noncompliance
  • During short periods of noncompliance, two patients experienced rhabdomyolysis with exercise. None experienced rhabdomyolysis or hospitalizations while on the diet. All patients returned to normal physical activities including strenuous sports.[neurology.org]
Cough
  • She does not have any abdominal or urinary issues, sensory disturbances, or difficulties breathing or coughing. There is no history of drug or alcohol abuse; she doesn’t smoke or take prescription medications.[medicalbag.com]
  • A traditional Chinese herbal medicine, banxia houp tang, improves cough reflex of patients with aspiration pneumonia. Journal of the American Geriatrics Society 2002; 50: 1751-2.[jsom.or.jp]
Palpitations
  • Palpitation of the muscles revealed no pain and reflexes were normal. Laboratory tests were ordered. A marked increase in white cells, neutrophils, and CRP (14.72 mg/dL) was observed, potentially indicating a bacterial infection.[medicalbag.com]
Insect Bite
  • She can’t recall having any insect bites and occasionally travels in Europe for business. Upon further investigation, a similar incident was discovered from 7 years prior.[medicalbag.com]
Onset in Adolescence
  • […] in adolescence or adulthood Onset in adolescents or young adults Some heterozygous CPT2 mutation carriers may be symptomatic Triggered by exercise, fasting, or other metabolic stresses[datagenno.com]

Workup

  • 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]
  • However, a key diagnostic feature is the absence of a rise in serum venous lactate during the Forearm ischemic exercise test in Workup. Also, the cramp, when recorded by needle EMG, is silent (contracture).[emedicine.medscape.com]

Treatment

  • If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment.[babysfirsttest.org]
  • The Connecticut AIDS Drugs Assistance Program The CT AIDS Drug Assistance Program provides eligible low-income residents with medications and health insurance premium assistance for the treatment of HIV and HIV-related conditions.[ct.gov]
  • Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders.[books.google.com]
  • Current treatment includes dietary fat restriction, with increased carbohydrate intake and exercise restriction to avoid muscle pain and rhabdomyolysis.[neurology.org]

Prognosis

  • Prognosis The myopathic form of CPT II has a good prognosis. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • What is the prognosis? If the enzyme is completely lost there is rapid progression of the condition leading to death in infancy. If some enzyme activity remains, little or no progression with normal strength between episodes.[mda.org.au]
  • The prognosis for individuals with CDSP depends on the age, presentation, and severity of symptoms at the time of diagnosis; however the long-term prognosis is favorable as long as individuals remain on carnitine supplementation.[ojrd.biomedcentral.com]
  • Once a person with muscle CPT-II deficiency is correctly diagnosed, the prognosis is good.[encyclopedia.com]

Etiology

  • Etiology Several missense mutations in the CPT2 gene result in the myopathic form of CPT II deficiency. In Caucasians, the most frequent mutation (60%) is the p.Ser113Leu mutation, which impairs enzyme stability.[orpha.net]
  • Rhabdomyolysis is etiologically heterogeneous, most cases being apparently acquired – for example, as a result of mechanical or vascular damage.[ncbi.nlm.nih.gov]
  • Singh U, Scheld WM (1996) Infectious etiologies of rhabdomyolysis: three case reports and review. Clin Infect Dis. 22(4):642–9 Google Scholar 86. Singhal PC, Abramovici M, Venkatesan J (1990) Rhabdomyolysis in the hyperosmolal state.[link.springer.com]
  • Metabolic myopathies are the most clearly defined and etiologically understood muscle disorders because their fundamental biochemical defects are known through recent developments in molecular biology and biochemistry.[emedicine.medscape.com]

Epidemiology

  • 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]
  • Summary Epidemiology About 300 cases of the myopathic form have been reported in the literature, but this number may under-estimate the disease prevalence.[orpha.net]
  • Epidemiology The incidence of CDSP varies depending on ethnicity. In Japan, the incidence of CDSP is approximately 1 in 40,000 [ 3 ], whereas the frequency in Australia is approximately 1 in 120,000 [ 4 ].[ojrd.biomedcentral.com]
  • Murayama K, Yamazaki T, Ito A, Uehara S, Sasaki N Journal of clinical pathology 58(8) 896 Aug 2005 [Refereed] Epidemiology of community-acquired pneumonia in children.[researchmap.jp]
Sex distribution
Age distribution

Pathophysiology

  • Get a quick and memorable overview of anatomy, pathophysiology, and clinical presentation from the precision and beauty of Netter and Netter-style plates that highlight key neuroanatomical and neurologic concepts.[books.google.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]
  • PubMed CrossRef Google Scholar Demaugre F, Bonnefont J-P, Brivet M, et al (1992) Pathophysiological approach to carnitine palmitoyltransferase II deficiencies. In Coates PM, Tanaka K, eds. New Developments in Fatty Acid Oxidation.[link.springer.com]
  • Understanding of the pathophysiology underlying the metabolic myopathies provides unique insights into the normal regulation of muscle metabolism.[neuromuscular.dk]
  • […] compared to the adult group. [17] This group concluded that both the type and location of CPT2 mutation in combination with at least one secondary genetic factor modulate the long-chain fatty acid flux and, therefore, the severity of the disease. [17] Pathophysiology[en.wikipedia.org]

Prevention

  • 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]
  • Prevention of secondary complications: Providing adequate hydration during an attack of rhabdomyolysis and myoglobinuria to prevent renal failure.[ncbi.nlm.nih.gov]
  • It means that there are outlier episodes where the normal steps are ineffective in preventing onset or stopping progression.[cpt2.me]
  • Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting).[ghr.nlm.nih.gov]
  • Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an[en.wikipedia.org]

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