Clinical presentation in most cases are unspecific and in the neonatal period or during infancy could be misdiagnosed as manifestation of sepsis, birth trauma, encephalitis, sudden death syndrome or other disease. [iberlibro.com]

In this presentation we focus on their clinical manifestations, the diagnostic procedures and the therapeutic possibilities. [itunes.apple.com]

Newborns are now screened for many treatable metabolic disorders, but these screening tests may miss milder presentations of treatable inborn errors of metabolism that present later in life. [ncbi.nlm.nih.gov]

The aim of this review is to focus on specific IEM associated with lung disease in adults and to provide the reader with an overview of the diagnostic workup, overall disease management, and specific treatments for the respiratory manifestations. [ncbi.nlm.nih.gov]

[…] with consulting specialists, will review the medical records of prospective subjects and offer admission based upon the potential to help the individual, to learn from the patient, or to initiate clinical or basic research suggested by the patient s workup [clinicaltrials.gov]

All the cases underwent metabolic workup on obtained random urine and blood samples to identify the presence of metabolites including proteins, glucose, ketone bodies, urobilinogen, bilirubin, and sulfite. [ijpm.info]

AB - Well-defined and reliable clinical outcome assessments are essential for determining whether a drug provides clinically meaningful treatment benefit for patients. [experts.umn.edu]

Abstract Well-defined and reliable clinical outcome assessments are essential for determining whether a drug provides clinically meaningful treatment benefit for patients. [ncbi.nlm.nih.gov]

This factor was highlighted in our cohort, with only five patients receiving treatment for their movement disorder. [ojrd.biomedcentral.com]

In the area of metabolic disease, he is developing new treatments for maple syrup urine disease and urea cycle disorders. Fernando Scaglia, MD, is a Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine. [books.google.de]

Recent advances in the diagnosis and treatment of these disorders have substantially improved the prognosis for many of them. Paediatricians and neonatologists play a vital role in identifying which patients need to be investigated. [ncbi.nlm.nih.gov]

[…] exhibit high diffusion signal MR spectroscopy: single-voxel proton MR spectroscopy may show the presence of branched-chain amino acids and branched-chain alpha-keto acids resonating at 0.9-1.0 ppm, especially during a metabolic crisis 1,2 Treatment and prognosis [radiopaedia.org]

Overall, prognosis for MCAD deficiency and most other fatty acid oxidation defects is excellent when caught at an early age and managed appropriately. [pedclerk.bsd.uchicago.edu]

[…] rigidity, and seizures precipitated by a febrile illness, typical CNS imaging findings, and raised urine and CSF glutaric acid level will help us in arriving at a timely diagnosis, proper management of each episode of catabolic state, and thus a favorable prognosis [mjdrdypu.org]

Shevell M (2008) Global developmental delay and mental retardation or intellectual disability: conceptualization, evaluation, and etiology. Pediatric Clinics of North America 55: 1071–1084. [els.net]

Etiology of hypoglycemia in infants and children. Up to Date. 2011 June; accessed 12/14/12. Sutton, VR. Inborn errors of metabolism: classification. Uptodate.com. 2011 Nov; accessed 12/14/12. Waisbren SE. [pedclerk.bsd.uchicago.edu]

The etiology of impaired sleep in PWS is probably multifactorial considering the close association of obesity and OSA. However, an additional role of hypothalamic dysfunction present in PWS cannot be ruled out. [frontiersin.org]

In this book a team of the world's experts in the field provide a clear, current, clinical analysis of the biochemistry, genetics, and epidemiology of homocysteine disorders, providing a uniquely comprehensive account of the broad range of medical, nutritional [books.google.de]

Author information 1 Department of Epidemiology & Community Medicine, University of Ottawa, Ottawa, Ontario, Canada. [email protected] Abstract Across all areas of health care, decision makers are in pursuit of what Berwick and colleagues have called [ncbi.nlm.nih.gov]

Epidemiology The incidence is 40 cases/100,000 live births in a Canadian study [ 1 ]. A much higher incidence of 1 in 784 live births has been reported from the West Midlands in the UK [ 2 ]. [patient.info]

A pilot study was then carried out by the MRC Centre of Epidemiology for Child Health at the UCL Institute of Child Health. [ucl.ac.uk]

Acid-alpha glucosidase for Pompe disease Gene therapy Bone marrow or organ transplantation Treatment of symptoms and complications Prenatal diagnosis Epidemiology [ edit ] In a study in British Columbia, the overall incidence of the inborn errors of metabolism [en.wikipedia.org]

This is an example of the tightrope midwives and obstetricians constantly find themselves walking and the comments of Edwards and Nelson about imprecise definitions of underlying pathophysiologies are valid and timely3. [bmj.com]

The biochemical sequence that leads from phenylalanine accumulation to intellectual disability remains obscure, although it is likely that the underlying pathophysiology evokes alterations of brain energy metabolism, neurotransmitter synthesis, and myelin [britannica.com]

Pompe disease: from pathophysiology to therapy and back again. Frontiers in aging neuroscience. 2014;6:177. Selim LA, Hassan SA, Salem F, et al. [rarediseasesjournal.com]

Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models. J Inherit Metab Dis. 2010 October; 33(5): 539–546. Stanley CA, Hale DE, Coates PM, Hall CL, Corkey BE, Yang W, Kelley RI, Gonzales EL, Williamson JR, Baker L. [pedclerk.bsd.uchicago.edu]

Chronic cardiac failure in children due to dilated cardiomyopathy: Diagnostic approach, pathophysiology and management. Eur J Pediatr 2000;159:803-810. 29. Treem WR. [ahcmedia.com]

Therefore, maintaining a high index of suspicion is extremely important for early diagnosis and the institution of appropriate therapy, which are mandatory to prevent death and ameliorate complications from many IEMs. Copyright 2015 Elsevier Inc. [ncbi.nlm.nih.gov]

Strict compliance is necessary to prevent neurological damage. Glycine - nonketotic hyperglycinaemia, or glycine encephalopathy: It is caused by deficiency of the glycine cleavage multi-enzyme system. [patient.info]

Removal of dietary phenylalanine in PKU and galactose in galactosemia is effective in preventing the development of symptoms if treatment is begun early. [medical-dictionary.thefreedictionary.com]