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Acetyl-L-carnitine, ALCAR or ALC, is an acetylated form of L-carnitine.It is naturally produced by the human body, and it is available as a dietary supplement. Acetylcarnitine is broken down in the blood by plasma esterases to carnitine which is used by the body to transport fatty acids into the mitochondria for breakdown and ener
Seizures, an irregular heartbeat, and breathing problems are often the first signs of this disorder. This disorder may also cause extremely low levels of ketones (products of fat breakdown that are used for energy) and low blood sugar (hypoglycemia). Together, these two signs are called hypoketotic hypoglycemia.
Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.
Salt and pepper developmental regression syndrome, also known as Amish infantile epileptic syndrome [4] or GM3 deficiency syndrome, [5] is a rare autosomal recessive progressive neurological disorder characterized by developmental delay, severe intellectual disability, seizures, and skin pigmentation irregularities.
The presentation of patient with SPCD can be incredibly varied, from asymptomatic to lethal cardiac manifestations. [5] Early cases were reported with liver dysfunction, muscular findings (weakness and underdevelopment), hypoketotic hypoglycemia, cardiomegaly, cardiomyopathy and marked carnitine deficiency in plasma and tissues, combined with increased excretion in urine. [5]
Breakthrough seizures are more likely with a number of triggers. [54]: 57 Often when a breakthrough seizure occurs in a person whose seizures have always been well controlled, there is a new underlying cause to the seizure. [55] Breakthrough seizures vary. Studies have shown the rates of breakthrough seizures ranging from 11 to 37%. [56]
Seizures may also occur as a consequence of other health problems; [30] if they occur right around a specific cause, such as a stroke, head injury, toxic ingestion, or metabolic problem, they are known as acute symptomatic seizures and are in the broader classification of seizure-related disorders rather than epilepsy itself.
57279 Ensembl ENSG00000178537 ENSMUSG00000032602 UniProt O43772 Q9Z2Z6 RefSeq (mRNA) NM_000387 NM_020520 RefSeq (protein) NP_000378 NP_065266 Location (UCSC) Chr 3: 48.86 – 48.9 Mb Chr 9: 108.54 – 108.56 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 Identifiers Symbol SLC25A20 Alt. symbols CACT NCBI gene ...
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