Carnitine deficiency, systemic primary

Preferred Label : Carnitine deficiency, systemic primary;

Symbol : CDSP;

CISMeF acronym : CDSP; CUD; SCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine; Carnitine deficiency, primary; CUD; SCD; Carnitine uptake defect; Carnitine transporter, plasma-membrane, deficiency of; Systemic carnitine deficiency;

Description : Primary systemic carnitine deficiency is due to a defect in the high-affinity carnitine transporter expressed in muscle, heart, kidney, lymphoblasts, and fibroblasts. This results in impaired fatty acid oxidation in skeletal and heart muscle. In addition, renal wasting of carnitine results in low serum levels and diminished hepatic uptake of carnitine by passive diffusion, which impairs ketogenesis (Lamhonwah et al., 2002). See also myopathic carnitine deficiency (212160), which is restricted to skeletal muscle.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 22 (organic cation transporter), member 5 gene (SLC22A5, 603377.0001).;

Laboratory abnormalities : Abnormal liver enzymes; Increased urinary carnitine; Decreased carnitine in serum, muscle, heart, and liver; Impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes; Hyperammonemia; No dicarboxylic aciduria; No ketosis;

Prefixed ID : #212140;

Details

Origin ID

212140;

UMLS CUI

C0342788;

Automatic exact mappings (from CISMeF team)
- Acyl-CoA Desaturase [NCIt concept]
- Cud (body structure) [Inactive SNOMED CT concept]
- Doctor of Science [NCIt concept]
- SCD Gene [NCIt concept]
- Schnyder corneal dystrophy [ORDO Disease]
- Secondary ciliary dyskinesia [ORDO Disease]
- Sickle cell disease without crisis [ICD-11 Subcategory]
- Sudden Cardiac Death [NCIt concept]
- calcium dependent sulfhydryl protease [MeSH concept]
- calcium dependent sulfhydryl protease [MeSH Supplementary Concept]
- cud [UBERON concept]
- solute carrier family 22 member 5 [ORDO Gene]
- symbol withdrawn CDSP [HGNC gene]
Currated CISMeF NLP mapping
- Carnitine transporter deficiency [ICD-11 More detail]
- Carnitine uptake deficiency [LOINC component]
- Primary Carnitine Deficiency [NCIt concept]
- Primary carnitine deficiency [ICD-9 code]
- Renal carnitine transport defect (disorder) [SNOMED CT concept]
- Systemic carnitine deficiency [MeSH concept]
- Systemic primary carnitine deficiency [ORDO Disease]
- systemic carnitine deficiency [MeSH Supplementary Concept]
- systemic primary carnitine deficiency disease [DO Concept]
DO Cross reference
- systemic primary carnitine deficiency disease [DO Concept]
Genes related to phenotype
- Solute carrier family 22 (organic cation transporter), member 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Coma [HPO term]
- Confusion [HPO term]
- Congestive heart failure [HPO term]
- Decreased carnitine level in liver [HPO term]
- Decreased plasma carnitine [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated liver enzymes [HPO term]
- Encephalopathy [HPO term]
- Endocardial fibroelastosis [HPO term]
- Excessive daytime somnolence [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Impaired gluconeogenesis [HPO term]
- Lethargy [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Recurrent hypoglycemia [HPO term]
- Reduced muscle carnitine level [HPO term]
- Vomiting [HPO term]
- Weakness [HPO term]
Not associated HPO term(s)
- Dicarboxylic aciduria [HPO term]
- Ketosis [HPO term]
ORDO concept(s)
- Systemic primary carnitine deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine transporter deficiency [ICD-11 More detail]
- Carnitine uptake deficiency [LOINC component]
- Primary Carnitine Deficiency [NCIt concept]
- Primary carnitine deficiency [ICD-9 code]
- Renal carnitine transport defect (disorder) [SNOMED CT concept]
- Systemic carnitine deficiency [MeSH concept]
- Systemic primary carnitine deficiency [ORDO Disease]
- Systemic primary carnitine deficiency [MedDRA LLT]
- renal carnitine transport defect [SNOMED Notion]
- systemic carnitine deficiency [MeSH Supplementary Concept]
- systemic primary carnitine deficiency disease [DO Concept]

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