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Genetic and Metabolic Conditions for Children with Special Health Care Needs

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Abstract

Public health disease prevention programs have expanded newborn screening to most nations, although lack of access to prenatal and birth care continues to be a major challenge to improving child health and reducing morbidity/mortality in poor, rural, and other disadvantaged regions. Newborn screening involves collection of a few blood spots from a newborn infant’s heel, followed by rapid laboratory analysis, often at a centralized testing facility, and relaying of the test results to the pediatrician for appropriate action. Such testing and rapid reporting are important for some genetic conditions such as phenylketonuria and classical galactosemia, where failure to provide treatment and restricted diets within days can result in severe brain damage, permanent disability, and/or death. Newborn screening started in the 1970s with a core set of tested conditions, including phenylketonuria, sickle-cell anemia and other hemoglobinopathies, galactosemia, and congenital hypothyroidism. Beginning around 2000, the invention of Tandem Mass Spectrometry enabled testing of a wide array of additional amino acid, organic acid, and fatty acid metabolic conditions so that currently in the United States, more than 50 genetic or metabolic conditions are tested. An overview of many of these screened conditions is provided along with resources for more information, although the number of documented, different conditions numbers in the thousands, most of which cannot be diagnosed with current newborn screening technology. The provided resources provide excellent details and emphasize the importance of proper prenatal and postnatal pediatric care and monitoring to identify these conditions if they arise. Most conditions are treatable with proper nutritional restrictions.

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Abbreviations

CoA:

Coenzyme A

CF:

Cystic Fibrosis

DNA:

Deoxyribonucleic Acid

G6PDD:

Glucose 6 Phosphate Dehydrogenase Deficiency

LCADD:

Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

LCHADD:

Long-Chain Hydroxy Acyl-Coenzyme A Dehydrogenase Deficiency

MCADD:

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

MCKAT:

Medium-Chain 3-Ketoacyl-Coenzyme A Thiolase

MSUD:

Maple Syrup Urine Disease

SCADD:

Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

SCHADD:

Short-Chain HydroxyAcyl-Coenzyme A Dehydrogenase Deficiency

NAD:

Nicotinamide Adenine Dinucleotide

OMIM® :

Online Mendelian Inheritance in Man

RNA:

Ribonucleic Acid

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  1. University of North Carolina at Chapel Hill, CB 7530, 27599, Chapel Hill, NC, USA

    Jr. David Hollar Ph.D., MS

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    David Hollar

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Hollar, D. (2012). Genetic and Metabolic Conditions for Children with Special Health Care Needs. In: Hollar, D. (eds) Handbook of Children with Special Health Care Needs. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-2335-5_14

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