Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Table 1 Summary of clinical and laboratory findings of the patients

	Patient 1	Patient 2	Patient 3
Relevant medical history
Pregnancy	HELLP	uneventful	HELLP
Gestational age	35	39	29
Features of metabolic decompensation
Age (months)	4	8	5
Hypoglycemia	+	–	–
Lactic acidosis	+	–	+
Hyperammonemia	+	–	n. a.
Hepatopathy	+	–	+
Cardiomyopathy	+	+	+
Rhabdomyolysis	–	–	+
Long term complications
Cardiomyopathy	–	–	–
Rhabdomyolysis	–	–	+
Retinopathy	+	–	+

Symbols and abbreviations are as follows: n. a. = not available, + = present, − = not present, HELLP: hemolysis elevated liver enzymes low platelet count

ISSN: 1750-1172