We present a three-day-old female child, admitted to us for lethargy, icterus, low sugars and convulsions. [ncbi.nlm.nih.gov]

• Pain

  This form is characterized by recurrent episodes of muscle pain (myalgia) and weakness and is associated with the breakdown of muscle tissue (rhabdomyolysis). [sbncollegehockey.com]

  DiMauro and Melis-DiMauro described this enzyme defect in 2 brothers suffering from recurrent episodes of muscle pain and pigmenturia with occasional renal failure. [medlink.com]

  The muscular form of CPT II deficiency is characterized by pain crises and rhabdomyolysis triggered by energy-dependent factors. [mdpi.com]

  […] hepatosplenomegaly, sometimes renal tubulopathy - type II (CPT II): - either a multisystemic form: acute cardiac and hepatic failure in the neonatal period - either a myopathic form: 3 clinical presentations 1) letal perinatal form 2) infantile form: muscle pain [sites.uclouvain.be]

• Poor Feeding

  Gradually hypotonia, lethargy, and poor feeding developed and by 20 hours of age recurrent cardiac dysrrhythmias, myocardial dysfunction, and renal insufficiency with intermittent hyperkalemia were apparent. [ncbi.nlm.nih.gov]

  Other features included hypotonia, poor feeding, renal insufficiency, and respiratory failure. Death occurred on day 12 of life, and postmortem examination confirmed lethal neonatal CPT II deficiency. [genome.jp]

• Fatigue

  Late-onset mitochondrial myopathies feature proximal muscle weakness, easy fatigueability, and variably elevated CK levels. Lactic acidemia is often absent. [the-rheumatologist.org]

  Movement disorder; Seizure Weakness (65%) Severity: Usually mild; Occasionally severe or none Distribution: Proximal; Symmetric; Legs > Arms; Paraspinal Course: Increases with age Other muscle features Muscle atrophy: May be generalized Fatigue with [neuromuscular.wustl.edu]

  Natelson, Association of medically unexplained fatigue with ACE insertion/deletion polymorphism in gulf war veterans, Muscle & Nerve, 30, 1, (38-43), (2004). [doi.org]

  […] distance Aciduria Coma Metabolic acidosis Polymicrogyria Heart block Hepatic failure Lethargy Dilated cardiomyopathy Apnea Neonatal hypotonia Elevated hepatic transaminase Acidosis Respiratory failure Elevated serum creatine phosphokinase Arrhythmia Fatigue [mendelian.co]

  After infancy most toddlers, children, and adults require regular meals and snacks during the day and before bed to prevent hypoglycemia and fatigue ( 55 ). [atm.amegroups.com]

• Swelling

  Awareness of how to diagnose and treat these disorders is vital because during a metabolic crisis, an undiagnosed individual may experience excessive buildup of fat in the liver, heart and kidneys, along with some brain swelling— all of which can lead [fodsupport.org]

  This can lead to symptoms such as swelling and shortness of breath. Untreated heart weakness may lead to death early in life. Liver problems are another serious possible complication. [cedars-sinai.org]

  […] replacement therapy available Mucopolysaccharidoses (MPS) -caused by incomplete degradation of mucopolysaccharides (glycosaminoglycans) -build-up of materials causes symptoms -ex: heparin, dermatan, chondroitin, keratin Common clinical features of MPS -swelling [quizlet.com]

• Surgical Procedure

  Patients with LCFAODs are always at risk of metabolic decompensation especially during stress and any instance where energy intake is decreased (e.g., illness, fasting, vigorous exercise, skipping meals, vomiting, surgical procedures). [atm.amegroups.com]

• Diarrhea

  18q11.2) [MIM 601 656 ] genes - FOXP3 (forkhead homeobox P3) (Xp11.23) gene coding for scurfine: X-linked syndrome IPEX (acronym for I mmune dysregulation P olyendocrinopathy, E nteropathy, X -linked) that combines exfoliative dermatitis, refractory diarrhea [sites.uclouvain.be]

  Other symptoms may include vomiting, diarrhea, lethargy (very sleepy), seizures, coma and difficulty breathing. Please also refer to our Description of Disorders page for more specific information on symptoms and presentation of the various FODs. [fodsupport.org]

  Call your doctor at the start of any illness: Always call your health care provider right away when your child has any of the following: • poor appetite • low energy or excessive sleepiness • vomiting • diarrhea • an infection • a fever • persistent muscle [checkorphan.org]

  Some of the first signs of a metabolic crisis are: extreme sleepiness behavior changes irritable mood poor appetite Other symptoms then follow: fever diarrhea vomiting hypoglycemia If a metabolic crisis is not treated, a child with CPT-2 deficiency can [newbornscreening.info]

  The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia), which disrupts eating. [mitoaction.org]

• Cardiomegaly

  Keywords: Cardiomegaly, carnitine palmitoyltransferase II deficiency, hyperkalemia How to cite this article: Casadei A, Biasini A, Cuna CD, Mancini L, Sensi A. Neonatal arrhythmias due to deficiency of carnitine palmitoyltransferase II. [jcnonweb.com]

  Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy. [uniprot.org]

  Autopsy findings include diffuse lipid accumulation, cardiomegaly, dysplastic kidneys, and brain migration defects. [pediatricneurologybriefs.com]

  He presented on the first day of life with nonketotic hypoglycemia, seizures, hepatomegaly, cardiomegaly with biventricular hypertrophy, and ventricular arrhythmias. [genome.jp]

• Myalgia

  This form is characterized by recurrent episodes of muscle pain (myalgia) and weakness and is associated with the breakdown of muscle tissue (rhabdomyolysis). [sbncollegehockey.com]

  Myalgia, either single attacks of severe myalgia (often with myoglobinuria) or frequent exercise-induced myalgia, was the most frequent symptom in 27 (96%) of our CPT II–deficient patients. [jamanetwork.com]

  Reduced energy production can lead to some of the features of CPT II deficiency, such as hypoketotic hypoglycemia, myalgia, and weakness. [medlineplus.gov]

  Key points • Carnitine palmitoyltransferase II deficiency frequently manifests with episodes of rhabdomyolysis after prolonged exercise and fasting leading to myoglobinuria and myalgia. • This muscle form of the disease is the most frequent cause of hereditary [medlink.com]

  Patients present primarily with recurrent attacks of myalgia and muscle weakness, associated with rhabdomyolysis and myoglobinuria ( Deschauer et al., 2005 ; Joshi et al., 2018 ). [frontiersin.org]

• Widely Spaced Nipples

  spaced nipples ABDOMEN: [Liver]; Hepatomegaly; Macrovesicular steatosis; Lipid accumulation in hepatocytes; Liver calcifications; [Gastrointestinal]; Poor feeding GENITOURINARY: [Kidneys]; Enlarged polycystic kidneys (detectable prenatally); Dysplastic [genome.jp]

• Bulbous Nose

  Clinical Synopsis: INHERITANCE: Autosomal recessive HEAD AND NECK: [Head]; Microcephaly; [Face]; High, sloping forehead; Prominent forehead; [Eyes]; Cararacts; [Ears]; Overfolded helices; Low-set ears; Posteriorly-rotated ears; [Nose]; Bulbous nose; [ [genome.jp]

  Intrauterine growth retardation Dysphagia Coloboma Abnormal eyelash morphology Short thumb Progressive visual loss Smooth philtrum Short toe Hypospadias Aplasia/Hypoplasia of the eyebrow Lymphedema Pes planus Decreased antibody level in blood Myopia Dilatation Bulbous [mendelian.co]

  nose 10 HP:0001640 Cardiomegaly 11 HP:0001640 Cardiomegaly hallmark 12 HP:0000518 Cataract NAMDC: Cataracts 13 HP:0002514 Cerebral calcification typical 14 HP:0008315 Decreased plasma free carnitine 15 HP:0011936 Decreased plasma total carnitine 16 HP [mseqdr.org]

• High Sloping Forehead

  Associated dysmorphic features were noted, including microcephaly, a high sloping forehead, overfolded helices, long and tapered fingers and toes, contractures, and hypoplastic toenails. [genome.jp]

• Confusion

  Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances Clinical Reference Recommendations for in-depth reading of a clinical nature [mayomedicallaboratories.com]

  […] dehydrogenase (ETFDH) gene that was previously described in patients with multiple acyl-CoA dehydrogenase deficiency (MAD deficiency; glutaric acidemia type II). 14 Previous reports attributed MAD deficiency to a “trifunctional protein deficiency,” 1 creating confusion [the-rheumatologist.org]

  Differential Diagnosis Early onset VLCADD may be confused with other rare forms of cardiomyopathy, including glycogen storage disease type 2, Pompe disease, and carnitine disorders, such as carnitine palmitoyltransferase II (CPT II, neonatal variety only [medicalhomeportal.org]

  Clinical symptoms typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, vomiting, muscle weakness, and low blood sugar (hypoglycemia). [mitoaction.org]

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]

• Total Bilirubin Increased

  […] long-chain fatty acids; Long-chain dicarboxylic aciduria; Hyperammonemia; Increased total bilirubin; Increased tissue levels of triglycerides; Increased tissue levels of free fatty acids; Severely decreased palmitate oxidation; Severely decreased carnitine [genome.jp]

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]

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]

Adopted: January 9, 1995 Guidelines, Medical, Treatment, Injury, Lower, Extremity, Lower extremity injury medical treatment guidelines, Lower extremity injury, Medical treatment guidelines Related search queries Operative Hip Arthroscopy Rehabilitation [new-york-library.com]

Dietary treatment may or may not be required depending upon the methionine level. These babies require ongoing blood tests to determine if dietary treatment will be necessary. [slh.wisc.edu]

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 children with this condition: 1. [checkorphan.org]

Prognosis Prognosis is poor. The neonatal form is almost always lethal during the first months of life. The documents contained in this web site are presented for information purposes only. [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]

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 Except for infantile forms that are usually lethal, prognosis is excellent if the disease is identified before the first decompensation occurs. [medicalhomeportal.org]

Virus Detection The Virus Detection Section is responsible for: Provincial viral diagnostic services; Surveillance of respiratory, enteric and sexually transmitted infection of viral etiology; Supplying viral strain information and primary isolates to [gov.mb.ca]

Etiology The severe neonatal CPT II deficiency is caused by homozygous or compound heterozygous CPT2 mutations that typically result in complete loss of activity of the CPT II enzyme. [orpha.net]

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 It is a rare form of CPT II deficiency that has been reported in less than 20 families. [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]

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

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]

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]

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. [checkorphan.org]

This is from the National Institute of Health : 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). [sbncollegehockey.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]