Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease

Table 1

Genetic/metabolic disorders tested for on parental prenatal carrier panels.

3-Phosphoglycerate dehydrogenase deficiency	Hereditary thymine-uraciluria
Abetalipoproteinemia	Homocystinuria
Alkaptonuria	Hurler syndrome (mucopolysaccharidosis type 1)
Alpha-mannosidosis	Hypophosphatasia
Aspartylglucosaminuria	Isovaleric acidemia
Biotinidase deficiency	Krabbe disease
Canavan disease	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Carnitine palmitoyltransferase IA deficiency	Maple syrup urine disease
Carnitine palmitoyltransferase II deficiency	Medium chain acyl-CoA dehydrogenase deficiency
Classic citrullinemia	Metachromatic leukodystrophy
CLN3-related neuronal ceroid lipofuscinosis	Mucolipidosis IV
CLN5-related neuronal ceroid lipofuscinosis	Multiple sulfatase deficiency
Congenital disorder of glycosylation, type Ia	Niemann-Pick disease type C
Congenital disorder of glycosylation, type Ib	PEX1-related Zellweger syndrome spectrum
Cystinosis	Phenylalanine hydroxylase deficiency
D-bifunctional protein deficiency	Pompe disease
Dihydrolipoamide dehydrogenase deficiency	PPT1-related neuronal ceroid lipofuscinosis
Galactosemia	Primary carnitine deficiency
Gaucher disease	Primary hyperoxaluria type 1
Glutaric acidemia type Ia	Primary hyperoxaluria type 2
Glycogen storage disease type 1a	Pycnodysostosis
Glycogen storage disease type 3	Rhizomelic chondrodysplasia punctata type 1
Glycogen storage disease type V	Salla disease
Hereditary fructose intolerance	Segawa syndrome
Tay-Sachs disease	Short chain acyl-CoA dehydrogenase deficiency
TPP1-related neuronal ceroid lipofuscinosis	Smith-Lemli-Opitz syndrome
Type I tyrosinemia	Wilson disease