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Summary
CARNITINE TRANSPORTER DEFECT. PRIMARY SYSTEMIC CARNITINE DEFICIENCY
CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL ABS. MYOPATHY-METABOLIC, CARNITINE DEFICIENCY, PRIMARY AND SECON
212140
OMIM = Online Medalian Inheritance of Men
158
5q31.1
  • L-carnitine
rare
autosomal recessive
mutation in the SLC22A5 gene
symptoms
anemia
cardiomyopathy
cardiomyopathy, dilated
early death
encephalopathy
failure to thrive
hyperammonemia
hypoglycemia
hypoketotic hypoglycemia
infections (severe or recurrent)
liver involvement or dysfunction
metabolic acidosis
muscle weakness
myopathy
onset, childhood
onset, infancy
pain, muscle
peripheral neuropathy
laboratory finding
Carnitine 40.0060.00decreasedplasma
Ammonia200.002000.0025.0080.00-Ámol/lblood
D-Glucose0.503.002.805.00mmol/lserum
Transaminases30.002000.0010.0030.00U/lserum
Carnitine uptake 0.270.64decreasedfibroblasts
Dicarboxylic acids0.000.00 normal/increasedurineno data
Acylcarnitine 12.4050.70very lowblood
Carnitine 10.0044.00very lowblood
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