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Metadata
ID DOID:14365
Name systemic primary carnitine deficiency disease
Definition An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
http://en.wikipedia.org/wiki/Carnitine_deficiency
Xrefs

ICD10CM:E71.41

ICD9CM:277.81

ICD9CM_2006:277.81

MESH:C536778

NCI:C98864

OMIM:212140

SNOMEDCT_US_2018_03_01:21764004

UMLS_CUI:C0342788

Alternateids

DOID:1668

Subsets

NCIthesaurus

Synonyms

carnitine transporter deficiency [EXACT]

carnitine uptake defect [EXACT]

deficiency of plasma-membrane carnitine transporter [EXACT]

primary carnitine deficiency [EXACT]

renal carnitine transport defect [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

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