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Carnitine Deficiency

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Carnitine Deficiency" returned 8 free, full-text review articles. First few results:
Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.
Last Updated: Feb 25, 2020

Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder. Its clinical phenotypes are classified into the muscle, severe infantile, and lethal neonatal forms. Among Caucasians, the muscle form predominates, and ...

Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.
Last Updated: Nov 13, 2018

Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. ...

Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.
Last Updated: Nov 13, 2018

Could 10-20% of autism be prevented? We hypothesize that nonsyndromic or "essential" autism involves extreme male bias in infants who are genetically normal, but they develop deficiency of carnitine and perhaps other nutrients in the brain causing autism that may be amenable to early ...

Full PubMed Review articles matches at NCBI:
8 Free Review Articles 52 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Carnitine Deficiency" returned 0 free, full-text editorial articles. First 0 results:
Systemic carnitine deficiency.
Last Updated: Nov 19, 2015

Full PubMed Editorials matches at NCBI:
0 Free Editorials 1 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Carnitine Deficiency" returned 89 free, full-text research articles. First few results:
A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency.
Last Updated: Dec 27, 2019

Background The clinical phenotypes of carnitine palmitoyltransferase type-2 deficiency (CPT2D) are classified into lethal neonatal, severe infantile and muscle forms. The rarest form is the lethal neonatal form. Case presentation The patient was hypotonic and bradycardic at admission. ...

Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis.
Last Updated: Feb 19, 2020

Rotavirus infection is a major cause of gastroenteritis, which occurs mainly in children. Liver dysfunction due to rotavirus gastroenteritis has been reported; however, acute hepatitis due to this disease is very rare. We present a rare case in which rotavirus gastroenteritis led ...

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
Last Updated: Mar 09, 2020

Primary carnitine deficiency is caused by a defect in the active cellular uptake of carnitine by Na -dependent organic cation transporter novel 2 (OCTN2). Genetic diagnostic yield for this metabolic disorder has been relatively low, suggesting that disease-causing variants are missed. ...

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89 Free Research Articles 528 Research Articles