CARNITINE TRANSPORTER DEFICIENCY; PRIMARY SYSTEMIC CARNITINE DEFICIENCY

Question 1

What is  CARNITINE TRANSPORTER DEFICIENCY; PRIMARY SYSTEMIC CARNITINE DEFICIENCY?

Accepted Answer

rare (1:77000)
autosomal recessive

mutation in the SLC22A5 gene

- infancy: acute hypoglycemic episodes

- childhood: progressive cardiomyopathy and muscle weakness

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Carnitin-Mangel, primärer systemischer; Carnitin-Transporter-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 212140

Question 4

Which enzymes are involved?

Accepted Answer

Solute carrier family 22 member 5

Disease	CARNITINE TRANSPORTER DEFICIENCY; PRIMARY SYSTEMIC CARNITINE DEFICIENCY
Synonym	CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL ABS.; MYOPATHY-METABOLIC, CARNITINE DEFICIENCY, PRIMARY AND SECON
OMIM	212140 OMIM = Online Mendelian Inheritance of Men
Orphanet	158
Protein (UniProt)	Solute carrier family 22 member 5
Gene locus	5q31.1
ICD	E71.3
Summary	rare (1:77000) autosomal recessive mutation in the SLC22A5 gene - infancy: acute hypoglycemic episodes - childhood: progressive cardiomyopathy and muscle weakness
Laboratory findings	Adipic acid n/i (urine) Acylcarnitine (C2) normal/dec (blood) Creatine kinase normal/inc (serum) L-Carnitine dec (plasma) Sebacic acid n/i (urine) Suberic acid n/i (urine) Transaminases (ASAT/ALAT) normal/inc (serum) Ammonia inc (blood) Carnitine uptake dec (fibroblasts) D-Glucose normal/dec (serum) Dicarboxylic acids normal/inc (urine) L-Carnitine normal/dec (blood)
Symptoms	cardiac arrhythmia, dysrhythmia cardiomyopathy cardiomyopathy, hypertrophic encephalopathy failure to thrive hepatomegaly (large liver) hyperammonemia hypoglycemia hypoketotic hypoglycemia hypotonia lethargy, drowsiness, apathy liver involvement or dysfunction muscle weakness myopathy rhabdomyolysis coma early death headache (severe, recurrent or occipital, migraine) infections (severe or recurrent) liver steatosis metabolic acidosis onset, childhood onset, infancy pain, abdominal pain, muscle peripheral neuropathy seizures