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Biomedical subjects

H E Wiltse

Publications and source records attributed to H E Wiltse.

7 recordsLinked to original sources
PubMed2000

Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency.

An adopted 3(1/2)-year-old girl with no prior medical problems died after a routine dental procedure. More than 2 years later, acylcarnitine analysis of dried blood found on her bedding revealed she had very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. Perioperative oral fasting, without intravenous administration of glucose, may be detrimental to children with certain metabolic and endocrine disorders. Newborn screening by tandem mass spectrometry will detect disorders of fatty acid oxidation such as VLCAD and allow early and preventive treatment.

Acyl-CoA Dehydrogenase, Long-Chain↗
PubMed1978

Mucolipidosis type III. Multiple elevated serum and urine enzyme activities.

The clinical characteristics of a 16-year-old white girl with mucolipidosis type III included early growth retardation, severe dysostosis multiplex, restricted joint motion, tight indurated skin, swollen eyelids, late-onset hepatosplenomegaly, umbilical hernia, corneal opacities, and only slightly impaired mental and neurological development. Cultured fibroblasts contained numerous coarse perinuclear retractile inclusions. Biochemical findings indicated the following: (1) normal levels of urinary acid mucopolysaccharides, (2) deficient activities of multiple lysosomal hydrolases in cultured fibroblasts, (3) elevated activity levels of seven serum lysosomal hydrolases, and (4) elevated activity levels of four lysosomal hydrolases in urine.

Adolescent↗
PubMedDate not supplied

Assessment of the infant with acute metabolic problems.

Those inborn errors of metabolism which characteristically produce acute illness during the first year of life often resemble infectious illnesses in their nonspecific modes of presentation. Grouping of signs and symptoms into prototypes, followed by an active search for clinical and laboratory clues with higher specificity, often proves helpful in making an appropriate choice of confirmatory diagnostic tests.

Acute Disease↗