Decreased plasma carnitine

Symptom Information:

Symptom ID: HPO:0003234
Synonyms:
Carnitine deficiency [HPO:0003234]
Carnitine deficiency [OMIM:Carnitine deficiency]
Decreased plasma carnitine [OMIM:Decreased plasma carnitine]
Carnitine deficiency [MedDRA:10058892]
Quality:
Cross references:
OMIM: "Carnitine deficiency" [OMIM:Carnitine deficiency]
OMIM: "Decreased plasma carnitine" [OMIM:Decreased plasma carnitine]
Is a (Direct Parents):
HPO         Abnormality of mitochondrial metabolism
MedDRA Lipid metabolism and deposit disorders NEC
HPO         Abnormality of carnitine metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of cell physiology(HPO:0011017)
             Abnormality of the mitochondrion(HPO:0012103)
                Abnormality of mitochondrial metabolism(HPO:0003287)
                   Decreased plasma carnitine(HPO:0003234)
          Abnormality of lipid metabolism(HPO:0003119)
             Abnormality of fatty-acid metabolism(HPO:0004359)
                Abnormality of fatty-acid anion metabolism(HPO:0010966)
                   Abnormality of carnitine metabolism(HPO:0010967)
                      Decreased plasma carnitine(HPO:0003234)
MedDRA:
Metabolism and nutrition disorders(MedDRA:10027433)
    Abnormality of lipid metabolism(HPO:0003119)
       Lipid metabolism and deposit disorders NEC(MedDRA:10024581)
          Decreased plasma carnitine(HPO:0003234)
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of lipid metabolism(HPO:0003119)
          Lipid metabolism and deposit disorders NEC(MedDRA:10024581)
             Decreased plasma carnitine(HPO:0003234)
Database Frequency: 9 / 7739
Resource:

All diseases associated with this symptom:

3-hydroxy-3-methylglutaric aciduria (Orphanet:20)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Carnitine uptake deficiency (Orphanet:158)
Carnitine-acylcarnitine translocase deficiency (Orphanet:159)
Cystinosis (Orphanet:213)
Isobutyryl-CoA dehydrogenase deficiency (Orphanet:79159)
Medium chain acyl-CoA dehydrogenase deficiency (Orphanet:42)
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (Orphanet:254864)
Very long chain acyl-CoA dehydrogenase deficiency (Orphanet:26793)