Bartter syndrome and its neonatal variant
- Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution. Superti-Furga, Andrea // European Journal of Pediatrics. Supplement;2003, Vol. 162, pS17
The new technology of tandem mass spectrometry is having a significant impact on the diagnostics of inborn metabolic errors. One of the most important aspects of this new technology is the possibility of recognising a whole class of disorders within a single analytical step. Shall this powerful...
- A 16-Day-Old Breast-fed Infant with Metabolic Acidosis Caused by Salicylate. Clark, Joseph H.; Wilson, William G. // Clinical Pediatrics;Jan1981, Vol. 20 Issue 1, p53
This is a report of a 16-day-old, breast-fed infant who presented with metabolic acidosis and no history of drug ingestion. Salicylate intoxication was demonstrated as the probable cause of the acidosis.
- SCREENING-UL NEONATAL ÎN BOLILE GENETICE DE METABOLISM. Popescu, Valeriu; Antrasian, Alis; Zamfirescu, Andrei // Romanian Journal of Pediatrics;2009, Vol. 58 Issue 4, p353
Routine screening of newborn infants for metabolic disorders was introduced in 1961 after Bickel established an effective dietary therapy for phenyketonuria (PKU) and Guthrie developed a bacterial inhibition assay to detect elevated concentrations of phenylalanine in dried blood tests. Over...
- Infantile Epileptic Syndromes and Metabolic Etiologies. Vigevano, Federico; Bartuli, Andrea // Journal of Child Neurology;Dec2002 Supplement 3, Vol. 17, p3S9
Inherited metabolic disorders can cause onset of epilepsy in the first year of life. Epilepsy rarely dominates the clinical presentation, which is more frequently associated with other neurologic symptoms, such as mental retardation, hypotonia and/or dystonia, or vigilance disturbances. The...
- Fulminant hepatic failure in a neonate with systemic echovirus infection. Babovic-Vuksanovic, Dusica; El-Youssef, Mounif // Acta Medica Academica;2011, Vol. 40 Issue 1, p75
We report the fatal case of neonatal fulminant hepatic failure due to Echovirus infection mimicking an acute metabolic decompensation. After exclusion of several metabolic disorders, the diagnosis of the infectious etiology was confirmed by Polymerase Chain Reaction of Echovirus in liver and...
- Congenital hypothyroidism: Screening dilemma. Desai, Meena P. // Indian Journal of Endocrinology & Metabolism;Dec2012 Supplement, Vol. 16, pS153
Primary sporadic congenital hypothyroidism (CH) is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH) are well established. It is mandatory in most...
- Calcium deficiency rickets in a North American child. Taylor, Arlene; Mandell, Gerald // Clinical Pediatrics;Aug94, Vol. 33 Issue 8, p494
Presents a case study of a North American child who developed severe calcium deficiency rickets as a result of consuming a low-calcium diet. Results of the physical examination of the child; Modification in the child's diet.
- Homocystinuria. Isherwood, David M. // BMJ: British Medical Journal (International Edition);10/26/96, Vol. 313 Issue 7064, p1025
Proposes the early diagnosis and intervention for homocystinuria among children. Clinical features; Differential diagnosis; Support for molecular genetic diagnostic tests.
- Delay in diagnosis of homocystinuria: Retrospective study of consecutive patients. Cruysberg, Johan R.M.; Boers, Godfried H.J. // BMJ: British Medical Journal (International Edition);10/26/96, Vol. 313 Issue 7064, p1037
Assesses the causes for delay in the diagnosis of homocystinuria. Mean age of diagnosis; Differential diagnosis; Factors precipitating the diagnosis of homocystinuria.