Cancer-related fatigue. Some cancer patients have low blood levels of L-carnitine, which might reduce energy and lead to fatigue. Some early research suggests that taking L-carnitine might improve fatigue in advanced cancer patients. [webmd.com]

The clinical picture is characterized by recurrent attacks of rhabdomyolysis, muscular pains and fatigue, secondary to a prolonged physical exercise and sometimes aggravated by intercurrent events. [ncbi.nlm.nih.gov]

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]

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

Accumulate Leu, Ile, Val Symptoms:SWEET SMELLING URINE (from Sotolone), metabolic acidosis, optic atrophy, AHDS, axial hypotonia, exertional fatigue, mental retardation, ataxia, hypoglycemia, liver enz & br-chain AA in serum, abdominal pain Deficient [quizlet.com]

However, they are prone to viral infection (high fever)-related encephalopathy (PubMed:21697855). Disease description A severe neurologic complication of an infection. [uniprot.org]

organ dysfunction syndrome, and much more. [books.google.com]

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

More common in males Carnitine palmitoyl-transferase II deficiency (INFANTILE) LCFA accumulated in mitochondria Seizures, loss of consciousness, hypokinetic hypoglycemia, cardiomegaly, hepatomegaly Carnitine palmitoyl-transferase II deficiency (NEONATE [quizlet.com]

The neonatal form presents shortly after birth with respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. [mendelian.co]

Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance both in human subjects and in models of human diseases. [books.google.com]

(λ excitation : 470 40 nm band pass filter, λ detection : 535 50 nm band pass filter) [ 20, 21 ]. [journals.plos.org]

ECG may reveal a pre-excitation syndrome in individuals harboring a mtDNA LHON-causing pathogenic variant; referral to cardiology can be considered and treatment for symptomatic individuals is the same as that in the general population. [mitoaction.org]

Genetic testing - Pre-excitation ventricular arrhythmia (See Wolff-Parkinson-White syndrome ...). Genetic Testing - Preeclampsia (Preeclampsia) - Genes Corin EPHXI and STOX1. [ivami.com]

It is characterized by respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. recessive. [uniprot.org]

The neonatal form presents shortly after birth with respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. [mendelian.co]

Genetic Testing - epilepsy with febrile seizures generalized (Generalized epilepsy febrile seizures With) - Gen GABRG2. [ivami.com]

Genetic Testing - benign familial neonatal epilepsy (Benign familial neonatal seizures -BFNS-) - Genes KCNQ2 and KCNQ3. Genetic Testing - benign hereditary chorea (Bening Chorea hereditary) - Gen NKX2-1. [ivami.com]

Disease description An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. [uniprot.org]

[…] age: Infancy to 1st decade; Intrafamilial variation General: Fatigability; Vomiting; Abdominal pain; Low height & weight Hypoglycemia: May occur in infants Encephalopathy: Episodic; r/o Reyes syndrome Myopathy: Generalized weakness Cardiomyopathy Dilated [neuromuscular.wustl.edu]

hypoglycemia, severe cardiac involvement, renal malformations, arrhythmias, sudden death. [newbornscreening.info]

The disease is characterized by a severe fasting intolerance leading to metabolic derangements of hypoketotic hypoglycemia, resulting in coma and seizures, and hepatic encephalopathy leading to liver failure. [orpha.net]

• A severe infantile form with liver failure and hypoketotic hypoglycemia and a lethal neonatal form represent other rarer manifestations. • Analysis of acylcarnitine profile in blood by tandem mass spectrometry that is used in newborn screening is [medlink.com]

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

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

In affected children, high-grade fever is accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. [uniprot.org]

It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. [mendelian.co]

The sudden-onset brain edema with clinical manifestation in patients supports the ATP threshold hypothesis in the etiology of this kind edema. [journals.plos.org]

Japanese patients Genetics: Missense mutations, Phe352Cys & Val368Ile CPT2 protein : Mutation causes thermolability Clinical Fever Seizures Coma Multiorgan failure Brain edema Laboratory Acylcarnitine ratios: High Carnitine-acylcarnitine translocase deficiency [neuromuscular.wustl.edu]