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]

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]

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 exercise [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]

Pearls & Alerts for Treatment & Management Avoid factors causing physical stress Physical stress caused by illness, dehydration, fatigue, and, in some cases, high-fat diets can lead to acute decompensation. [medicalhomeportal.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]

The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias. The neonatal form is almost always lethal during the first months of life. [orpha.net]

[…] in infancy: neonatal genetic screening may enable the prevention of sudden infant death Yuki Oshima, Takuma Yamamoto, Taisuke Ishikawa, Hiroyuki Mishima, Aya Matsusue, Takahiro Umehara, Takehiko Murase, Yuki Abe, Shin-ichi Kubo, Koh-ichiro Yoshiura, [nature.com]

Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy. [ncbi.nlm.nih.gov]

Case 3 A 7-year-old male presented for inpatient consultation with recurrent vomiting, metabolic acidosis, a 6-month history of exercise intolerance accompanied by weakness, and poor weight gain. [the-rheumatologist.org]

Poor feeding, poor weight gain, vomiting and diarrhea, lethargy, and hypotonia are initial symptoms. [genico.ch]

Some women carrying fetuses with Fatty Acid Oxidation Disorders have developed: excessive vomiting abdominal pain high blood pressure jaundice abnormal fat storage in the liver severe bleeding All women with a family history of CPT-2 deficiency should [newbornscreening.info]

They may experience neonatal jaundice and hemolysis that can be so serious as to cause neurologic damage or even death. [genico.ch]

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

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]

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]

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]

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]

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]

nose Microphthalmia Inguinal hernia Cerebral hemorrhage Recurrent respiratory infections Delayed skeletal maturation Coarctation of aorta Abnormality of the cardiovascular system Growth hormone deficiency Cardiomegaly Webbed neck Osteopenia Cavernous [mendelian.co]

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]

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

bilirubin; Increased tissue levels of triglycerides; Increased tissue levels of free fatty acids; Severely decreased palmitate oxidation; Severely decreased carnitine palmitoyltransferase II (CPT II) activity (less than 10% of normal) in multiple tissues [genome.jp]