systemic primary carnitine deficiency disease
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
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