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Can Newborn Screening for Vitamin B₁₂ Deficiency be Incorporated into All Newborn Screening Programs?

Hawthorne, Sarah; Levy, Harvey L.

J Pediatr ; 216: 9-11.e1, 2020 01.

Article in English | MEDLINE | ID: mdl-31610929

Subject(s)

Vitamin B 12 Deficiency , Vitamin B 12 , Germany , Humans , Infant, Newborn , Neonatal Screening , Public Health , Vitamins

Genomics in newborn screening.

Landau, Yuval E; Lichter-Konecki, Uta; Levy, Harvey L.

J Pediatr ; 164(1): 14-9, 2014 Jan.

Article in English | MEDLINE | ID: mdl-23992678

Subject(s)

Brain Diseases, Metabolic, Inborn , Genetic Techniques , Genomics/methods , Neonatal Screening/methods , Brain Diseases, Metabolic, Inborn/diagnosis , Brain Diseases, Metabolic, Inborn/epidemiology , Brain Diseases, Metabolic, Inborn/genetics , Global Health , Humans , Incidence , Infant, Newborn

Is melatonin synthesis a new biomarker for the pathogenesis and treatment of phenylketonuria?

Cederbaum, Stephen; Levy, Harvey L.

J Pediatr ; 162(5): 893-4, 2013 May.

Article in English | MEDLINE | ID: mdl-23312686

Subject(s)

Amino Acids, Neutral/therapeutic use , Biomarkers/blood , Dietary Supplements , Melatonin/metabolism , Phenylketonurias/metabolism , Female , Humans , Male

Newborn screening for metabolic disorders.

Marsden, Deborah; Larson, Cecilia; Levy, Harvey L.

J Pediatr ; 148(5): 577-584, 2006 May.

Article in English | MEDLINE | ID: mdl-16737864

Subject(s)

Metabolism, Inborn Errors/diagnosis , Neonatal Screening/organization & administration , Cost-Benefit Analysis , Humans , Infant, Newborn , Mass Spectrometry , Neonatal Screening/economics , Outcome Assessment, Health Care , Predictive Value of Tests

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

Picker, Jonathan D; Puga, Ana C; Levy, Harvey L; Marsden, Deborah; Shih, Vivian E; Degirolami, Umberto; Ligon, Keith L; Cederbaum, Stephen D; Kern, Rita M; Cox, Gerald F.

J Pediatr ; 142(3): 349-52, 2003 Mar.

Article in English | MEDLINE | ID: mdl-12640389

ABSTRACT

We describe a rare and lethal case of arginase deficiency in a 2-day-old female infant with encephalopathy and cerebral edema. The levels of glutamine and arginine but not ammonia were markedly elevated, lending support to the "glutamine hypothesis" as the mechanism of cerebral edema in urea cycle defects.

Subject(s)

Brain Edema/congenital , Glutamine/blood , Hyperargininemia , Amino Acids, Basic/blood , Ammonia/blood , Arginase/analysis , Arginine/blood , Brain Edema/metabolism , Female , Humans , Infant, Newborn , Kidney/enzymology , Liver/enzymology , Renal Dialysis

Mental retardation of metabolic origin

Levy, Harvey L.

In. Thorburn, Marigold J; Tucker, Carol A. Proceedings of the Fourth Caribbean Congress on Mental Retardation. Kingston, Caribbean Institute on Mental Retardation and Developmental Disabilities, 1976. p.6-12.

Monography in English | MedCarib | ID: med-9915

Subject(s)

Humans , Infant, Newborn , Infant , Male , Female , Intellectual Disability/diagnosis , Intellectual Disability/metabolism , Intellectual Disability/therapy , Phenylketonurias/diagnosis

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