systemic primary carnitine deficiency disease
CARNITINE deficiency, systemic primary
related
CDSP
exact
CUD
exact
Carnitine deficiency
exact
Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine
related
Carnitine plasma-membrane transporter deficiency
related
Carnitine transporter defect
exact
Carnitine uptake deficiency
exact
SPCD
exact
carnitine transporter deficiency
exact
carnitine uptake defect
exact
cud
exact
deficiency of plasma-membrane carnitine transporter
exact
primary carnitine deficiency
exact
renal carnitine transport defect
exact
systemic primary carnitine deficiency disease
exact
Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
MONDO:0004736
inborn disorder of amino acid metabolism
is_a
MONDO:0017713
disorder of fatty acid oxidation and ketogenesis
is_a
MONDO:0017716
disorder of carnitine cycle and carnitine transport
is_a