Table 3. [Genes of Interest in the Differential Diagnosis of Carnitine-Acylcarnitine Translocase Deficiency]. - GeneReviews®

Gene	Disorder	MOI	Laboratory Findings	Comment
ACADVL	Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency	AR	Hypoketotic hypoglycemia, hyperammonemia, hyperCKemia (myopathic form), transaminitis, altered hepatic synthetic function (hepatic form); ↑ C14, C14:1, C14:2 & C12 in acylcarnitine profile	Early-onset cardiac & multiorgan failure in VLCAD deficiency can be reminiscent of CACT deficiency, but acylcarnitine profile is quite different.
CPT2	Carnitine palmitoyltransferase II (CPT II) deficiency	AR	Hypoketotic hypoglycemia, hyperammonemia, hyperCKemia; ↑ C16 & C18:1 in serum/plasma acylcarnitines.	CPT2 & CACT deficiency have similar acylcarnitine profiles & are indistinguishable at presentation at birth & through NBS. Molecular genetic testing &/or enzyme activity is required.
TANGO2	TANGO2-related metabolic encephalopathy and arrhythmias	AR	Hypoglycemia, lactic acidosis, mild hyperammonemia, hyperCKemia., transaminitis; ↑ C10 or C14:1 in acylcarnitine profile (during acute episode) & marked ketoacidosis w/lactic acidosis in urine organic acids	TANGO2-related metabolic encephalopathy is assoc w/↑ risk for motor & intellectual disability, brain abnormalities, hypothyroidism, seizures, & adrenal insufficiency. Onset age is variable.

Gene

Disorder

MOI

Laboratory Findings

Comment

ACADVL

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

Hypoketotic hypoglycemia, hyperammonemia, hyperCKemia (myopathic form), transaminitis, altered hepatic synthetic function (hepatic form); ↑ C14, C14:1, C14:2 & C12 in acylcarnitine profile

Early-onset cardiac & multiorgan failure in VLCAD deficiency can be reminiscent of CACT deficiency, but acylcarnitine profile is quite different.

CPT2

Carnitine palmitoyltransferase II (CPT II) deficiency

Hypoketotic hypoglycemia, hyperammonemia, hyperCKemia; ↑ C16 & C18:1 in serum/plasma acylcarnitines.

CPT2 & CACT deficiency have similar acylcarnitine profiles & are indistinguishable at presentation at birth & through NBS. Molecular genetic testing &/or enzyme activity is required.

TANGO2

Hypoglycemia, lactic acidosis, mild hyperammonemia, hyperCKemia., transaminitis; ↑ C10 or C14:1 in acylcarnitine profile (during acute episode) & marked ketoacidosis w/lactic acidosis in urine organic acids

TANGO2-related metabolic encephalopathy is assoc w/↑ risk for motor & intellectual disability, brain abnormalities, hypothyroidism, seizures, & adrenal insufficiency. Onset age is variable.

From: Carnitine-Acylcarnitine Translocase Deficiency

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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