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Differential Diagnosis For Newborn screening tests abnormal (extended)

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List of current finding(s):

Metabolic, Storage Disorders
Carnitine/Acylcarnitine translocase deficiency
Citrullinemia/Argininsuccinicaciduria
HyperArgininemia
Ketotic hyperglycinemia, idiopathic
Methyl crotonyl CoA carboxylase deficiency
Methylmalonic acidemia/ketotic glycine
Phenylketonuria/PKU
Propionicacidemia/ketotic glycinemia
Pyroglutamic acidemia
Acyl-CoA Dehydrogenase/short chain def
Aminoacid enzyme/metabolic disorder
Hyperammonemia, hereditary
LCHAD/Long chain OH-CoA dehydrogenase def
MCAD/Medium chain OH-CoA Dehydrogenase def
Ornithine Transcarbamylase (OTC) defic.
Ornithinemia
Proprionic acidemia/congenital
Tyrosinemia, hereditary
VLCHAD/Very Long chain OH-CoA dehydrogenase def
Aminoaciduria
Carnitine palmityltranferase deficiency
Citrullinuria
Glutaric aciduria/Acidemia
Homocystinuria/homocystinemia
Maple syrup urine disease
Tetrahydrobiopterin deficiency/Atypical PKU
Urea cycle/metabolic disorder
Fatty acid oxidation/metabolic syndromes
Hyperammonemia/Ornithemia/Homocitrullinuris/HHH
Organic acidemias/Metabolic syndromes
Biochemical Disorders
Hyperammonemia
Synonyms
Abnormal, Infant Newborn Screening, Neonatal screen, Neonatal screening, Neonatal screening (procedure), Neonatal screening test, Neonatal Screenings, Newborn Infant Screening, Newborn Infant Screenings, Newborn Screening, Screening Neonatal, Screening Newborn Infant, Screenings Neonatal, Screenings Newborn Infant
Definition
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External Links Related to Newborn screening tests abnormal (extended)
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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