Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
36 results
  1. Carnitine-acylcarnitine translocase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/...tine-acylcarnitine-translocase-deficiency
    ... Learn more about the gene associated with Carnitine-acylcarnitine translocase deficiency SLC25A20 Inheritance This condition is inherited ... Other Names for This Condition CACT deficiency Carnitine acylcarnitine translocase deficiency Carnitine-acylcarnitine carrier deficiency Additional Information & ...
  2. SLC25A20 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/slc25a20
    ... tissues. Health Conditions Related to Genetic Changes Carnitine-acylcarnitine translocase deficiency At least 27 mutations in the SLC25A20 gene have been found to cause carnitine-acylcarnitine translocase (CACT) deficiency. Although these mutations change the ...
  3. Multiple Acyl-CoA Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK558236
    ... in urine is highly suggestive of MADD. Plasma acylcarnitine profile typically shows elevations of C4, C5, C5DC, ... MADD, as summarized in Supportive Laboratory Findings . Plasma acylcarnitine profile. Individuals with the late-onset milder form ...
  4. Short-Chain Acyl-CoA Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK63582
    ... relevant (see Table 1 footnote 4). Biochemical testing Acylcarnitine profile testing is used to confirm C4 elevations. ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... health-condition-summary><health-condition-summary ><name >Carnitine-acylcarnitine translocase deficiency</name><ghr-page >https://medlineplus.gov/ ...
  6. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... and B 12 levels, plasma amino acids, and acylcarnitine profile. Relevant findings: High plasma and urine MMA ... organic acid analysis (by GC/MS) and plasma acylcarnitine profile (by TMS). Note: At the same time, ...
  7. Genetic Conditions: C 
    https://medlineplus.gov/genetics/condition-c
    ... with vanishing white matter CACT deficiency, see Carnitine-acylcarnitine translocase deficiency CADASIL, see Cerebral autosomal dominant arteriopathy ...
  8. Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK542806
    ... al 2015 , Huffnagel et al 2018 ] While plasma acylcarnitine profile is often normal, slight elevations of C4 acylcarnitines may be seen [ Ganetzky et al 2016 , Nair ...
  9. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic ><url >https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency</url><title >Carnitine-acylcarnitine translocase deficiency</ ...
  10. Fructose-1,6-Bisphosphatase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK550349
    ... w/hypoglycemia, hyperammonemia, & ↓/absent ketones. Typically hypoketotic hypoglycemia ↑ acylcarnitine in MS/MS Multiple Mitochondrial respiratory chain disorders & ...
previous · 1 · 2 · 3 · next