WARNING: the foods we cook for Abby are safe for her, but not necessarily for everyone. Please confirm any ingredients are safe for you before using in your diet. Food Allergies can kill and the best policy is complete avoidance. Read this post for more info.

Thursday, March 8, 2012

NewBorn Screening Tests-up to age 8

A friend told me yesterday that in the State of Texas many of the metabolic disorders and other disorders that are automatically screened in other States are NOT part of the standard Newborn screening here.


However, you can for 35.00 order a supplemental screening test for your child and apparently until your child is 8 years old.

The supplemental screening test covers;

Screened Disorders
Disorders Detectable Through Supplemental Newborn Screening
Amino Acid Disorders:
Guanidinoacetate Methyltransferase deficiency (GAMT)
Homocystinuria: Cystathionine beta synthetase deficiency (HCY or HCYS)
Hypermethioninemia: Methionine adenosyl transferase deficiency (MAT or MET)
Maple Syrup Urine Disease (MSUD)
Nonketotic Hyperglycinemia (NKH)
Phenylketonuria (PKU) or Hyperphenylalaninemia
Tyrosinemia type I (TYR-I), Tyrosinemia II (TYR-II), Tyrosinemia III (TYR-III)

Urea Cycle Disorders:
Argininemia: Arginase deficiency (ARG)
Argininosuccinic aciduria: Argininosuccinate lyase deficiency (ASA)
Citrullinemia type I: Argininosuccinate synthetase deficiency (CIT I)
Citrullinemia type II: Citrin deficiency (CIT II)
Hyperammonemia, hyperornithinemia, homocitrullinuria: Ornithine Transporter Defect (HHH or ORNT2)

Fatty Acid Oxidation Defects:
Carnitine palmitoyltransferase I deficiency (CPT-I or CPT-IA)
Carnitine palmitoyltransferase II deficiency (CPT-II)
Carnitine/acylcarnitine translocase deficiency (CACT)
Carnitine transport defect: Carnitine uptake disorder (CTD or CUD)
Glutaric aciduria II: Multiple acyl-CoA dehydrogenase deficiency (GA-II or MADD)
Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
Mitochondrial trifunctional protein deficiency (TFP or MTP)
Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Organic Acidemias:
Beta ketothiolase, Short-chain ketoacyl thiolase or Mitochondrial methylacetoacetyl-CoA thiolase deficiency (BKT or T2)
Ethylmalonic encephalopathy (EMA ENC)
Glutaric aciduria, type I (GAI)
3-Hydroxy-3-methylglutaric aciduria: 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)
Holocarboxylase synthetase deficiency: Multiple carboxylase deficiency (HCS or MCD)
Isobutyryl-CoA dehydrogenase deficiency: Isobutyrylglycinuria (IBCD or IBG)
Isovaleric acidemia: Isovaleryl-CoA dehydrogenase deficiency (IVA)
Malonic aciduria: Malonyl-CoA decarboxylase deficiency (MAL)
2-Methylbutyryl-CoA dehydrogenase deficiency: 2-methylbutyrylglycinuria (2-MBCD or 2MBG)
3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
3-Methylglutaconic aciduria type I: 3-methylglutaconyl-CoA-hydratase deficiency (3-MGA type I)
Methylmalonic Acidemia: Methylmalonyl-CoA mutase deficiency (MUT or MMA)
5-Oxoprolinuria: Glutathione synthetase deficiency (5OXOPRO) or 5-Oxoprolinase deficiency
Propionic acidemia: Propionyl-CoA carboxylase deficiency (PA or PROP)
Some Cobalamin or Vitamin B12 Disorders

Revised: April 2008
Implemented: May 2008
Some of the disorders listed vary by type and time of onset of symptoms and though the disorder may be detected by this methodology, types and time of onset may not be distinguishable.


This isn't something anyone ever told us when Abby was under the age of 8(but maybe it wasn't offered back in those days?) After talking to a few people, it doesn't seem that all parents are aware that this critical and expensive testing is available for your child for an easy and super cheap 35.00 bucks.

Contact : Newborn Screening Request
Please complete the form below to request a supplemental newborn screening kit.

Kits are sent first class airmail. You should receive your kit through the mail in seven to ten business days, and payment will be collected when you submit your completed kit to the Institute of Metabolic Disease at Baylor. Kits sent outside the continental United States may take longer to receive (sometimes weeks longer).

For additional information, call 1.800.4BAYLOR.

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