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Differential Diagnosis For Neonatal metabolic screening (mass spec) abnormal

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List of current finding(s):

Metabolic, Storage Disorders
2,4 Dienoyl-CoA reductase deficiency
Carnitine/Acylcarnitine translocase deficiency
Citrullinemia/Argininsuccinicaciduria
Combined carboxylase/Biotinidase deficiency
Hydroxybutyric acidemia
Hydroxymethylglutaryl CoA lyase deficiency
HyperArgininemia
Isobutyryl-CoA dehydrogenase deficiency
Ketothiolase deficiency
Ketotic hyperglycinemia, idiopathic
Methyl crotonyl CoA carboxylase deficiency
Methylmalonic acidemia/ketotic glycine
Phenylketonuria/PKU
Propionicacidemia/ketotic glycinemia
Pyroglutamic acidemia
Trifunctional protein deficiency/metabolic
Acyl-CoA Dehydrogenase/short chain def
Beta-hydroxyisolvaleric acidemia
LCHAD/Long chain OH-CoA dehydrogenase def
MCAD/Medium chain OH-CoA Dehydrogenase def
Proprionic acidemia/congenital
Tyrosinemia, hereditary
VLCHAD/Very Long chain OH-CoA dehydrogenase def
Carnitine palmityltranferase deficiency
Galactosemia
Glutaric aciduria/Acidemia
Glutaric aciduria/type II
Homocystinuria/homocystinemia
Maple syrup urine disease
Pipecolic acidemia
Hyperammonemia/Ornithemia/Homocitrullinuris/HHH
Hypermethioninemia
Organic acidemias/Metabolic syndromes
Unclassified fatty oxidation syndromes (U-FAOD)
Synonyms
0-6 weeks old, Abnormal, baby, infant newborn, Infants (Newborn), Infants Newborn, Metabolic function test abnormal, Neonatal, Neonatal state, Neonate, Neonates, Newborn, NEWBORN (0-27 DAYS), Newborn (finding), Newborn (person), newborn human (0-6 weeks), Newborn infant, Newborn Infants, Newborns
Definition
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External Links Related to Neonatal metabolic screening (mass spec) abnormal
Google
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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