Newborn Screening for Adrenoleukodystrophy

  title={Newborn Screening for Adrenoleukodystrophy},
  author={G V Raymond and Richard O Jones and Ann Moser},
  journal={Molecular Diagnosis \& Therapy},
X-Linked adrenoleukodystrophy (X-ALD) is a progressive metabolic condition affecting the adrenal glands and nervous system of males. Although variable in the age of onset and presentation in families, X-ALD does present in characteristic phenotypes including a devastating childhood form that affects 35% of boys with this genetic condition. The majority of males with X-ALD will also develop adrenal insufficiency, which may result in crisis. Early detection is desirable in order to prevent… 
Endocrine Dysfunction in X-Linked Adrenoleukodystrophy.
X-linked adrenoleukodystrophy diagnosed in three brothers.
The case report describes three of the brothers suffering from ALD, diagnosed in different stages of disease, and the health condition of the eldest brother is severe, while the middle brother underwent HSCT and is in a good general condition.
X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies
  • Bela Turk, C. Theda, A. Fatemi, A. Moser
  • Biology, Medicine
    International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
  • 2020
This review summarizes the current understanding of the pathogenic cell‐ and tissue‐specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and the advent of newborn screening in the USA.
A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy
The findings suggest that the spectrum of X‐ALD may be broader than previously described and that milder cases may previously have been underrepresented, and that thoughtful planning to address these novel challenges and coordination by dedicated specialists will be imperative for successful implementation of population‐based screening for X‐ald.
Endocrine Diseases of Newborn
Congenital hypopituitarism results from a deficiency of any or all of the hormones secreted by the anterior pituitary gland (adreno-corticotropic hormone [ACTH]; growth hormone [GH];
Short-term and Long-term Follow-up 2 - Emerging Conditions (Get Ready!) Tuesday, Oct. 28 - 10:30am-12:00pm
A retrospective analysis was performed to determine the etiology of the false positives (FP) and the possibility of screening for other disorders when using low Cit as a marker in screening, and the newborn screening data of the only infant with P5CS deficiency was reviewed.
Peroxisome biogenesis disorders
This poster presents a probabilistic procedure called a “naïve” cell reprograming procedure that is simple and straightforward to implement in the clinic and shows promising results in relation to Down’s syndrome.


Evolution of phenotypes in adult male patients with X‐linked adrenoleukodystrophy
Axonal degeneration and cerebral demyelination emerge in X‐ALD independently of each other, which may have implications for the phenotype classification, the search for modifying factors, and the development and evaluation of new therapies.
Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil.
In this single-arm study, hexacosanoic acid reduction by Lorenzo's oil was associated with reduced risk of developing MRI abnormalities, and is recommended in asymptomatic boys with X-linked adrenoleukodystophy who have normal brain MRI results.
Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families.
There is a strong interest in prenatal, presymptomatic, and carrier testing and a need for genetic counselors to provide information about these available tests and X-linked inheritance.
Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.
It is concluded that boys with early-stage disease benefit from HCT, whereas boys with advanced disease may be candidates for experimental therapies.
Red blood cell ghosts are affected by adrenoleucodystrophy
It is concluded that adrenoleucodystrophy affects deeply RBC membranes, with an increase in total lipid, lipid‐protein ratio, membrane viscosity and in the Na+/K+‐dependent ATPase.
Diagnosis of adrenoleukodystrophy using dried blood spots.
The increased C26:0/C22:0 ratio in the fatty acids of sphingolipid fraction in dried blood spots on filter paper from the patient with adrenoleukodystrophy is demonstrated and is useful in the diagnosis of the patient and screening for the families known to be at risk.
Characteristic Acylcarnitine Profiles in Inherited Defects of Peroxisome Biogenesis: A Novel Tool for Screening Diagnosis Using Tandem Mass Spectrometry
A novel method is added to the diagnosis of peroxisome biogenesis disorder (PBD), which may also be of benefit for future neonatal mass screening programs based on acylcarnitine profiling.