[PDF] Top 20 Failure to Thrive: When to Suspect Inborn Errors of Metabolism
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Failure to Thrive: When to Suspect Inborn Errors of Metabolism
... A 4-month-old boy was transferred to our center because of lethargy and sei- zures. He was born at term after a nor- mal pregnancy. He had vomiting and mild high anion gap metabolic acidosis on the third day of life and ... See full document
10
Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department
... In this study, there were 30 patients diagnosed with acute unexplained encephalopathy who presented at the ER of our hospital, with their ages ranging from 1 month to 5 years. Infants of age ,1 year numbered 11 (37%) and ... See full document
6
Effectiveness of a Clinical Pathway for the Emergency Treatment of Patients With Inborn Errors of Metabolism
... (1) failure of families to bring the emergency letter, (2) language barriers, (3) family-re- lated cultural barriers (eg, passive rather than aggressive personalities), (4) relative nonavailability of ED physi- ... See full document
7
Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014)
... agnosis. Failure to enter a death into vital records, whether due to difficulty in doing so, lack of guidance, burial in ir- regular cemeteries, or simple lack of knowledge of the im- portance of death ... See full document
8
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
... The pathophysiologic mechanisms behind this severe multisystemic disease have not completely been eluci- dated at present. However it has been shown that de- myelination in the cblC defect (and most probable also in ... See full document
12
Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need
... from failure to use medical foods at all but can also result from insufficient treatment with medical foods, as is seen when a family can afford only part of the prescribed medical ... See full document
10
Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism
... The inborn errors of metabolism (IEM) Brazil network The IEM Brazil Network ...of inborn errors of ...energy metabolism disorders (13 %), carbohydrate metabolism disorders ... See full document
8
Detection of some metabolic disorders in suspected neonates admitted at Assiut University Children Hospital
... Inborn errors of metabolism (IEM) are a group of inher- ited genetic metabolic disorders that lead to enzymatic defects in the human metabolism and form a large class of genetic ... See full document
7
Inborn errors in the metabolism of glutathione
... The human gamma-glutamyl transpeptidase gene family is composed of at least seven different gene loci and sev- eral of them are located on the long arm of chromosome 22 [9]. Gamma-glutamyl transpeptidase is a heterodimer ... See full document
9
Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis
... carbohydrate metabolism or fatty acid oxidation. Among the best known inborn errors of metabolism associated with hypoglycemia are the hepatic glycogen storage diseases ...glycogen ... See full document
11
Inborn Errors of Metabolism: The Clinical Diagnosis in Early Infancy
... best known inborn errors of metabolism associated with hypoglycemia are the glycogen storage diseases of which types I (von Gierke disease or glucose-6- phosphatase deficiency) and III ([r] ... See full document
13
THE PATHOGENESIS OF MENTAL RETARDATION IN PHENYLKETONURIA AND OTHER INBORN ERRORS OF AMINO ACID METABOLISM
... amino acids in maple syrup disease, or it may be derived from the metabolic pooi,.. as for instance glycine, the amino acid metabolized abnormally in hyperglycine-.[r] ... See full document
14
New Developments in Screening for Inborn Errors of Metabolism
... Experience with the prototype, the phenylketonuria (PKU) program, dictates that mass screening for in- born errors of metabolism is here to stay and will most cer[r] ... See full document
6
Therapies for Inborn Errors of Metabolism: What Has the Orphan Drug Act Delivered?
... assessments. When financial incentives were instituted for all four measures, the rates of these screenings ...increased. When the incentives were removed for diabetic retinopathy and cervical cancer ... See full document
8
Gene therapy for inborn errors of liver metabolism: progress towards clinical applications
... efficiency. When tested in vivo, first generation of Ad (FGAd) vectors, which are replication-defective but can still express viral genes at low levels, cause acute and chronic ...system when they are ... See full document
6
GENES, MEDICINE AND SOCIETY: FROM PAEDIATRICS TO GENETIC COUNSELLING AND BEYOND
... In the area of genetic syndromes in Malaysia, the first case report of distal renal tubular acidosis (RTA) and hereditary elliptocytosis (now known as South-east Asia ovalocytosis) was reported in a Malay family with 3 ... See full document
8
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
... molecule IEMs have an acute intoxication presentation with a remitting-relapsing clinical course. These include organic acidemias, vitamin responsive disorders, urea cycle disorders, inborn errors of ... See full document
12
Metabolic Nutri Expert System: A Comprehensive Tool for Achieving Metabolic Control of Inborn Errors of Amino Acid Metabolism
... The main aim of this study was to develop a comprehensive nutritional planning expert system for inborn errors of amino acid metabolism (IEAAM). Metabolic Nutri-Expert System, integrated in the ... See full document
5
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease
... challenges when developing the electronic database search strategy be- cause a standardized database lexicon describing out- comes – in particular patient- and/or family-oriented outcomes – is ... See full document
9
Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review
... of inborn errors of metabolism (IEMs) that present as CP mimics, many of which are in fact amenable to therapy targeting the underlying cause that can improve neurological ... See full document
14
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