Skip to main content

Table 4 Screening results for 1263 newborns for inherited metabolic disorders

From: Next-generation sequencing based newborn screening and comparative analysis with MS/MS

Disease Names

Number of Suspected or Positive Cases

Number of Genetically Confirmed Cases

Amino Acid Metabolism Disorders:

9

0

Phenylketonuria

3

0

Cystinuria

2

0

Maple Syrup Urine Disease

-

-

Tyrosinemia

1

0

Citrullinemia Type I

-

-

Citrullinemia Type II

2

0

Arginemia

1

0

Ornithine Transcarbamylase Deficiency

-

-

Organic Acid Metabolism Disorders:

6

0

Glutaric Acidemia Type I

1

0

Methylmalonic Acidemia

1

0

Propionic Acidemia

-

-

Isovaleric Acidemia

1

0

Beta-Ketothiolase Deficiency

-

-

Glutaric Acidemia Type II

-

-

3-Methylglutaconyl-CoA Carboxylase Deficiency

-

-

3-Hydroxy-3-Methylglutaric Acidemia

1

0

Multiple Carboxylase Deficiency

1

0

Succinic Acidemia

1

0

Organic Acid Metabolism Disorders:

3

0

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

-

-

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

-

-

Trifunctional Protein Deficiency

1

0

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

1

0

Short-Chain Acyl-CoA Dehydrogenase Deficiency

-

-

Carnitine Uptake Deficiency

-

-

Carnitine Palmitoyltransferase I Deficiency

1

0

Carnitine Palmitoyltransferase II Deficiency

-

-