Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.
OBJECTIVE
To describe a diagnostic protocol, surveillance and treatment guidelines, genetic counseling considerations and long-term follow-up data elements developed in preparation for X-linked adrenoleukodystrophy (X-ALD) newborn screening in New York State.


METHODS
A group including the director from each regional NYS inherited metabolic disorder center, personnel from the NYS Newborn Screening Program, and others prepared a follow-up plan for X-ALD NBS. Over the months preceding the start of screening, a series of conference calls took place to develop and refine a complete newborn screening system from initial positive screen results to long-term follow-up.


RESULTS
A diagnostic protocol was developed to determine for each newborn with a positive screen whether the final diagnosis is X-ALD, carrier of X-ALD, Zellweger spectrum disorder, acyl CoA oxidase deficiency or D-bifunctional protein deficiency. For asymptomatic males with X-ALD, surveillance protocols were developed for use at the time of diagnosis, during childhood and during adulthood. Considerations for timing of treatment of adrenal and cerebral disease were developed.


CONCLUSIONS
Because New York was the first newborn screening laboratory to include X-ALD on its panel, and symptoms may not develop for years, long-term follow-up is needed to evaluate the presented guidelines.
Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA. Electronic address: beth.vogel@health.ny.gov.
B H
BH
Vogel
Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
S E
SE
Bradley
Jacobs Equity Management Personalized Genomic Medicine Program, Goryeb Pediatrics Genetics and Metabolism, Morristown, NJ, USA.
D J
DJ
Adams
Department of Pediatrics, University of Rochester Medical Center, Rochester, NY, USA.
K
K
D'Aco
Division of Genetics, Women and Children's Hospital of Buffalo, Buffalo, NY, USA.
R W
RW
Erbe
Department of Pediatrics, University of Rochester Medical Center, Rochester, NY, USA.
C
C
Fong
New York Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.
A
A
Iglesias
New York Medical College, Valhalla, NY, USA.
D
D
Kronn
Center for Inherited Medical Disorders, Children's Hospital at Montefiore, Bronx, NY, USA.
P
P
Levy
Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
M
M
Morrissey
Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
J
J
Orsini
Division of Genetics, Stony Brook Long Island Children's Hospital, Stony Brook, NY, USA.
P
P
Parton
Department of Pediatrics, State University of New York Upstate Medical University, Syracuse, NY, USA.
J
J
Pellegrino
Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
C A
CA
Saavedra-Matiz
Albany Medical Center, Albany, NY, USA.
N
N
Shur
Division of Medical Genetics, Division of Genomic Sciences, Mount Sinai Medical Center, New York, NY, USA.
M
M
Wasserstein
Department of Neurology, University of Minnesota Medical Center, Minneapolis, MN, USA.
G V
GV
Raymond
Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
M
M
Caggana
D042962:Acyl-CoA Oxidase / Q000172:deficiency; D000309:Adrenal Insufficiency / Q000175:diagnosis; D000326:Adrenoleukodystrophy / Q000175:diagnosis*; D000465:Algorithms; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D009518:New York; D018901:Peroxisomal Disorders / Q000175:diagnosis; D064029:Peroxisomal Multifunctional Protein-2 / Q000172:deficiency; D015211:Zellweger Syndrome / Q000175:diagnosis
D042962:Acyl-CoA Oxidase; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human
Adrenal insufficiency; Adrenoleukodystrophy; Genetic counseling; Newborn screening; Peroxisomal disorders