Table 2 Positive Cases Detected Through Newborn Screening (NBS) Using Tandem Mass Spectrometry (MS/MS) from 2019 to 2021, Along with Birth Prevalence Data in Iran

Aminoacidopathies

Total Cases: 55 (39.65%)

Most Prevalent Disorder: Phenylalanine metabolism defects, (42 cases, 30.21%)

1:2,500

1:3,333

Unknown

1:10,000

Notable Subtypes:

Hyperphenylalaninemia, (13 cases, 9.35%)

Classic PKU, (11 cases, 7.91%)

Organic acid disorders

Total Cases: 47 (33.81%)

1:2,525

1:20,000 to < 1:200,000

Leading Disorders:

3-Methylcrotonyl CoA carboxylase deficiency, (11 cases, 7.91%)

Methylmalonic acidemia, (10 cases, 7.20%)

1:12,500

1:14,250

1:30,000 to 1:50,000

1:48,000 to 1:61,000

Fatty Acid Oxidation Defects (FAOD)

Total Cases: 31 (22.30%)

1:4,454

1:6,500 to 1:110,000

Common Disorders:

Short-chain acyl-CoA dehydrogenase deficiency, (12 cases, 8.63%)

Medium-chain acyl-CoA dehydrogenase deficiency, (10 cases, 7.20%)

1:12,500

1:14,250

Unknown

1:4,900 to 1:27,000

Urea Cycle Defects

Total Cases: 6 (4.32%)

Identified Conditions: Citrullinemia type 1, Argininosuccinic aciduria and Carbamoylphosphate synthetase (CPS), (2 cases each)

1:23,460

1:35,000