PubMed Health⌕ Search

Biomedical subjects

G Hammersen

Publications and source records attributed to G Hammersen.

At least 19 recordsLinked to original sources
PubMed1997

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

OBJECTIVES: To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the differential diagnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative organic acid analysis in such patients. PATIENTS: The clinical features of 23 patients (20 families) with SSADH deficiency (4-hydroxybutyric acid-uria) are presented. The age at diagnosis ranged from 3 months to 25 years in the 11 male and 12 female patients; consanguinity was noted in 39% of families. OUTCOME MEASUREMENTS: The following abnormalities were observed (frequency in 23 patients): motor delay, including fine-motor skills, 78%; language delay, 78%; hypotonia, 74%; mental delay, 74%; seizures, 48%; decreased or absent reflexes, 39%; ataxia, 30%; behavioral problems, 30%; hyperkinesis, 30%; neonatal problems, 26%; and electroencephalographic abnormalities, 26%. Associated findings included psychoses, cranial magnetic resonance or computed tomographic abnormalities, and ocular problems in 22% or less of patients. Therapy with vigabatrin proved beneficial to varying degrees in 35% of the patients. Normal early development was noted in 30% of patients. CONCLUSIONS: Our data imply that two groups of patients with SSADH deficiency exist, differentiated by the course of early development. Our recommendation would be that accurate, quantitative organic acid analysis in an appropriate specialist laboratory be requested for any patients presenting with two or more features of mental, motor, or language delay and hypotonia of unknown cause. Such analyses are the only definitive way to diagnose SSADH deficiency; the diagnosis can be confirmed by determination of enzyme activity in white cells from whole blood. We think that increased use of organic acid determination will lead to increased diagnosis of SSADH deficiency and a more accurate representation of disease frequency. As additional patients are identified, we should have a better understanding of both the metabolic and clinical profiles of SSADH deficiency.

Adolescent↗
PubMed1981

[Technique for intraventricular application of antibiotics in bacterial meningitis of the newborn (author's transl)].

A new technique for intraventricular application of antibiotics by means of an indwelling catheter is described for the treatment of bacterial meningitis in the newborn. In cases of neonatal gram-negative meningitis with proven ventriculitis resistant to systemic therapy alone, a ventricular tap is performed. Through the needle an indwelling catheter is inserted into the right lateral ventricle. After removal of the needle the remaining catheter is used for obtaining ventricular fluid for diagnostic purposes as well as for direct intraventricular injection of antibiotics. This catheter can easily be inserted while the child is in the incubator in a neonatal intensive care unit, avoiding neurosurgery. Our present treatment procedure for neonatal meningitis is described.

Ampicillin↗
PubMed1979

Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease type B.

Niemann-Pick disease type B was diagnosed clinically and enzymatically in a 4 years old girl presenting with hepatosplenomegaly, diffuse interstitial infiltrations of both lungs on chest roentgenograms, and foam cells in the bone marrow aspirate. Intelligence and neurological examinations were normal. Spingomyelinase activity was almost totally deficient in leukocytes and cultured skin fibroblasts. Unexpectedly, fundoscopy revealed oculo-neural involvement with a reddish-brown spot of the macula comparable to but differing in some respects from the classic cherry-red spot found in neurolipidoses. By definition patients with type B Niemann-Pick disease should have no cerebral or oculo-neural involvement. Two comparable cases have been described in the literature. The prognosis of this special type is not yet known. For classification--and especially for genetic counselling--it seems important to include the possibility of oculo-neural involvement in the diagnosis of Niemann-Pick disease type B.

Child, Preschool↗
PubMed1978

Maple syrup urine disease: treatment of the acutely ill newborn.

Three patients with maple syrup urine disease were treated during the acute neonatal stage. Multiple exchange transfusions proved to be a satisfactory means of achieving rapid clinical and biochemical improvement during this phase. On the other hand, evidence is provided suggesting that in addition to exchange transfusions, a high calorie intake above 150 Cal/kg body weight/day is necessary to lower the plasma concentration of the branched chain amino acids to near-normal levels. As long as this calorie intake was not provided, further exchange transfusions failed to lower the plasma leucine concentration to below 17 mg/100 ml in one patient. It is assumed that this high calorie intake is necessary to prevent the breakdown of endogenous protein. Treatment of acute episodes in maple syrup urine disease should therefore not only eliminate the elevated alpha-keto acids and branched chain amino acids quickly (i.e. by multiple exchange transfusions or peritoneal dialysis), but in addition should provide a high calorie intake.

Energy Intake↗
PubMed1978

Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies.

The most common abnormality detected by the screening of newborn infants for galactosemia is a deficiency of galactose-1-phosphate uridyl transferase due to the presence in one individual of allelic genes for the Duarte variant and for galactosemia. Clinical studies of ten untreated individuals with this genetic compound, including three adults, failed to reveal evidence of cataracts, liver disease, or mental subnormality, the major clinical complications associated with galactosemia. Galactose-1-phosphate was not detectable in umbilical cord blood from one infant. Galactose was not detectable in random blood specimens from any of the individuals and was present in only small amounts following ingestion of milk in one infant and a child. It would appear that this common gentic variation is usually, if not always, benign.

Adult↗
PubMed1977

Group B streptococci: a new threat to the newborn.

8 newborns with early onset group B streptococcal infection and two patients with late onset meningitis were observed during a period of three years. Respiratory distress, early onset of apnoic spells, and roentgenographic signs of hyaline membrane disease or perinatal pneumonia may lead to early diagnosis, especially if shock develops. The fatal course can only be prevented by prompt antibiotic treatment.

Female↗
PubMed1977

Starch gel electrophoresis for galactose-1-phosphate uridylyl-transferase applied to dried filter paper blood specimens.

Starch gel electrophoresis of galactose-1-phosphate uridylyl transferase has been adapted for use on dried filter paper blood specimens submitted for the purposes of routine newborn screening for galactosemia and other inborn errors of metabolism. Selected for study were those specimens with reduced transferase activity, as determined by the Beutler enzyme spot screening test. Clinically benign low activity enzyme variants were readily identified, thus reducing significantly the number of requested additional blood specimens. Transferase-deficient specimens with potential clinical significance had too little activity for transferase visualization and thus could be separated from the benign variants. This technique would facilitate routine newborn screening for galactosemia.

Carrier State↗
PubMed1975

Comparison of galactose-1-phosphate uridyl transferase in fetal and adult tissues.

Galactose-1-phosphate uridyl transferase, the enzyme deficient in galactosemia, is demonstrated to be present in erythrocytes from fetuses of 12--30 weeks gestation. The specific activity and starch gel electrophoretic pattern of this enzyme in fetal erythrocytes is virtually identical to that found in erythrocytes postnatally. This enzyme was also studied in cultured fibroblasts from skin and amniotic cells and found to have similar specific activity and identical electrophoretic mobility in tissues from both sources. There does not appear to be a fetal isozyme for galactose-1-phosphate uridyl transferase in either erythrocytes or cultured fibroblasts. Thus, with fetal erythrocytes obtained by fetoscopy, it is likely that prenatal diagnosis of galactosemia can be rapidly and reliably accomplished.

Adult↗