Metabolic Disorder Screening

This procedure is able to screen for 24 hereditary metabolism disorders including amino metabolism disorder, organic acid metabolism and fatty acid oxidation disorder, which is helpful in early discovery and intervention to prevent from or avoid infant disability or death.

Introduction of neonatal metabolic disorder

Statistical data show that approximately 60 of every 200,000 newborns are affected with congenital metabolism disorder. Congenital metabolism disorder is associated with erroneous metabolism in newborns, which causes the metabolites that are normally eliminated from the body to accumulate and inflict toxicity. These metabolites can inflict permanent damage on body functions and intelligence, which are usually discovered when it’s beyond the golden period of treatment. The Metabolic Disorder Screening is aimed to detect the common congenital metabolic disorders to ensure their development.

Metabolic Disorder Screening

Phalanx Biotech’s “Metabolic Disorder Screening” is able to screen for 24 hereditary metabolism disorders including amino metabolism disorder, organic acid metabolism and fatty acid oxidation disorder, which is helpful in early discovery and intervention to prevent from or avoid infant disability or death.

Disease detection

Amino acid metabolism(12 items)

  • Hyperphenylalaninemia(HPA)
  • Tetrahydrobiopterin deficiency(BH4D)
  • Hypervalinemia(VAL)
  • Tyrosinemia I(TYR I)
  • Carbamoyl phosphate synthetase 1 deficiency(CPS)
  • N-Acetylglutamic acid synthase deficiency(NAGS)
  • Ornithine transcarbamylase deficiency(OTC)
  • Argininosuccinase deficiency(ASL)
  • Hyperornithinemia(ORA)
  • Hypermethioninemia(MET)
  • Nonketotic hyperglycinemia(NKH)
  • Histidinemia(Histidinemia/HIS)

Organic acid metabolism(7 items)

  • Multiple carboxylase deficiency(MCD)
  • Beta-ketothiolase deficiency(BKT)
  • 3-Methylglutaconyl-CoA hydratase deficiency(3MGA)
  • 2-methylbutyl-coenzyme A dehydrogenase deficiency(2MBD)
  • 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency(2M3HBA)
  • Isobutyryl-coenzyme A dehydrogenase deficiency(IBD)
  • Malonyl-CoA decarboxylase deficiency(MAD)

Fatty acid metabolism(5 items)

  • Glutaric Aciduria II(MADD)
  • Medium chain 3-ketoacyl-coenzyme A thiolase deficiency(MCKAT)
  • Medium/Short chain hydroxyacyl-coenzyme A decarboxylase deficiency(M/SCHADD)
  • 2,4-dienoyl-coenzyme A reductase deficiency(DCRD)
  • Ethylmalonic acidemia(EE)

Indications

  • All newborns
  • With family history
  • Suspected clinical patient

Best time of collection

  • 48 hours after birth
  • Within 7 days and breast-fed above 6 times

Screening procedure

1

Consultation and informed consent form

2

Collection of band transportation of heel blood sample

3

Sample management and testing as well as data analysis

4

Report analysis

This screening is a collaboration project by Phalanx Biotech and GenePhile Bioscience Laboratory (Ko’s Obstetrics and Gynecology Clinic). All tests are carried out by GenePhile Bioscience Laboratory.

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