Table 2.
Metabolic disorders in Filipino newborns—California vs. Philippines (adapted from Reference [40].
| Condition | a Cases in Filipino Newborns Born in California 7 July 2005–6 July 2011 | a Prevalence in Filipino Newborns Born in California 7 July 2005–6 July 2011 | b Estimated Annual Cases of Filipino Newborns Born in Philippines |
|---|---|---|---|
| Amino Acid Disorders | |||
| c Phenylketonuria (PKU) | 4 | 1:27,782 | 80 |
| c Variant Hyperphenylalaninemia | 1 | 1:111,127 | 20 |
| c Maple Syrup Urine Disease (MSUD) | 1 | 1:111,127 | 20 |
| Organic Acid Disorders | |||
| Methylmalonic Acidemia—MMA—(mut 0) | 3 | 1:37,042 | 60 |
| Methylmalonic Acidemia—MMA—(mut -) | 2 | 1:55,564 | 40 |
| β-Ketothiolase Deficiency (BKT) | 1 | 1:111,127 | 20 |
| Isobutyryl-CoA Dehydrogenase Deficiency (IBDHD) | 1 | 1:111,127 | 20 |
| Fatty Acid Oxidation Disorders | |||
| Medium chain Acyl-CoA Dehydrogenase Deficiency (MCAD Deficiency) | 2 | 1:55,564 | 40 |
| Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD Deficiency) | 3 | 1:37,042 | 60 |
| Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD deficiency) | 3 | 1:37,042 | 60 |
| Other Fatty Acid Oxidation Disorder | 2 | 1:55,564 | 40 |
| Others | |||
| Partial Biotinidase Deficiency | 1 | 1:111,127 | 20 |
| CFTR-Related Metabolic Syndrome (CRMS) | 5 | 1:22,225 | 100 |
| Cystic Fibrosis | 5 | 1:22,225 | 100 |
| c Classical Galactosemia | 1 | 1:111,127 | 20 |
| c Duarte Galactosemia (D/G) | 2 | 1:55,564 | 40 |
| Other Disorders | 2 | 1:55,564 | 40 |
| Totals | 39 | 780 | |
a Detected as part of California Newborn Screening Program (n = 111,127). Parents included: Filipino–Filipino (61,088); Filipino–White (18,546); Filipino–Hispanic (8507); Filipino–Hispanic–White (3849); Filipino–Other (19,127). b Assuming 100% coverage of 2 million annual births; overall prevalence (199 cases in 111,127 births—including 39 from conditions listed here, 109 hemoglobinopathies, and 51 endocrinopathies). c Technically this condition was already included in the Philippine NBS.