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. 2022 Jan 19;8(1):8. doi: 10.3390/ijns8010008

Table 1.

Disorders included in the Philippine Expanded Newborn Screening Program.

Disorder Group Disorder(s) Abbreviation
Endocrine Primary Congenital Hypothyroidism CH
Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) CAH
Amino Acid Homocystinuria HCY
Methionine Adenosine Transferase Deficiency (Hypermethioninemia) MAT
Maple Syrup Urine Disease MSUD
Phenylketonuria PKU
a Tyrosinemia Type I, II, III TYR
Fatty Acid Oxidation Carnitine Palmitoyltransferase I Deficiency CPT1
Carnitine Palmitoyltransferase II Deficiency CPT2
Carnitine Uptake Deficiency CUD
Glutaric Acidemia Type II GA II
Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD
Medium Chain-Acyl-CoA Dehydrogenase Deficiency MCAD
Very Long Chain-Acyl-CoA Dehydrogenase Deficiency VLCAD
Tri-functional Protein Deficiency TFP
Organic Acid 3-Methylcrotonyl CoA Carboxylase Deficiency 3MCC
Beta Ketothiolase Deficiency BKT
Glutaric Acidemia Type I GA1
Isovaleric Acidemia IVA
Methylmalonic Acidemia MMA
Multiple Carboxylase Deficiency MCD
Propionic Acidemia PA
Urea Cycle Citrullinemia CIT
Argininosuccinic Aciduria ASA
Hemoglobin All Detectable Hemoglobinopathies and Thalassemias HGB
Other Galactosemia GAL
Glucose-6-Phosphate Dehydrogenase Deficiency G6PDD
Cystic Fibrosis CF
Biotinidase Deficiency BIO

a Screening methodology includes screening for both succinyl acetone and tyrosine.