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Biomedical subjects

O H Wolff

Publications and source records attributed to O H Wolff.

At least 37 records · Page 2Linked to original sources
PubMed1978

Disordered intestinal function in glycogen storage disease.

The classical features of Type I glycogen storage disease (McKusick 23220) (GSD) are hepatomegaly, hypoglycaemia, and acidosis, enlargement of the kidneys and short stature. Glucose-6-phosphatase (EC 3.1.3.9) activity is defective not only in liver and kidney but also in small intestine (Field et al., 1965). In addition to the classical features, many patients suffer from episodes of diarrhoea (Fine et al., 1969). At the Hospital for Sick Children, Great Ormond Street, patients with the commoner forms of hepatic glycogen storage disease have episodes of diarrhoea or loose stools more commonly than was suspected. We have investigated small intestinal function in three patients with Type I GSD by both in vitro and in vivo techniques.

Diarrhea↗
PubMed1977

Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol.

The serum cholesterol concentrations of 134 children aged 1-16 years who had at least one first-degree relative with presumed familial hypercholesterolaemia showed a bimodal distribution, and, using the maximum likelihood technique, two overlapping curves could be fitted. The mean value of the affected children (heterozygotes) was 8-9 mmol/l and that of the unaffected 4-9 mmol/l. The two curves intersected at 6-77 mmol/l, and at this point 5% of the unaffected children had values over 6-77 mmol/l and 3-5% of the heterozygotes had values under 6-77 mmol/l. If this cholesterol concentration is used as a cut-off point 4-25% of cases would be misdiagnosed.

Adolescent↗
PubMed1976

Screening for familial hyper-beta-lipoproteinaemia in children in hospital.

1510 plasma cholesterol estimations were made in 1391 children admitted to hospital as part of a biochemical profile. Babies under 1 year and children known to have familial hyperlipoproteinaemia were excluded. The mean concentration was 4-28 mmol/l +/- 1-04 (1 SD) (165-3 mg/100 ml +/- 38-6), and levels exceeded 5-93 mmol/l (229 mg/100 ml) in 68 children. Repeat estimations on 55 of these children showed 34 still to have values greater than 5-93 mmol/l and family studies were performed in 19 of these. In 8 children hypercholesterolaemia was secondary and no familial lipoprotein disorder was present. Familial hyper-beta-lipoproteinaemia (FH) was diagnosed in 3 children and in 2 of the families there was a history of early ischaemic heart disease. In 2 children the diagnosis was in doubt. In the remaining 6 children FH and secondary hyperlipoproteinaemia were excluded so the hypercholesterolaemia was presumably environmentally induced, possibly in association with polygenic inheritance. In the present state of knowledge screening of the childhood population for FH by means of plasma cholesterol determinations cannot be recommended. Studies of lipoproteins should, however, be made in children from families known to have FH or early coronary heart disease.

Cholesterol↗
PubMed1975

New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.

Three children, two of them siblings, with an unusual type of phenylketonuria are described. The three patients, two of them observed from the neonatal period, had a progressive neurological illness which was unlike that of classical phenylketonuria, and which did not respond to a low phenylalanine diet. The biochemical features suggested that the block in the conversion of phenylalanine to tyrosine was less severe than in the classical disease, and phenylalanine rho-hydroxylase activity, measured in one patient was normal. It is suggested that the patients have a disorder of biopterin metabolism possibly due to a defect of the enzyme dihydropteridine reductase.

Biopterins↗
PubMed1975

Comparison of an amino acid mixture and protein hydrolysates in treatment of infants with phenylketonuria.

This study compares three feeding regimens for infants with phenylketonuria diagnosed by neonatal screening. Group 1 (five children) received Minafen (Cow & Gate) until they weighed twice their birthweights; Aminogran (Allen & Hanbury) was then added to the feeds in increasing amounts and replaced Minafen at between 8 and 10 months of age. Group 2 (five children) received Aminogran from the neonatal period. Group 3 (five children) received Minafen until they weighed twice their birthweights; Cymogran (Allen & Hanbury) was then added in increasing amounts and replaced Minafen at between 8 and 10 months of age. In all three groups growth was normal and control of phenylalanine levels satisfactory. During the first few months of life the Aminogran regimen proved more complicated and caused more practical difficulties than the regimens starting with Minafen. Later in the first year, when mixed feeding was introduced, and particularly when the bottle was exchanged for the cup, Aminogran had advantages over Cymogran because of its low calorie content, small bulk, and less unpleasant taste. At this age feeding problems were fewer and easier to manage with Aminogran than with Cymogran. A method of using Aminogran in the management of such problems is described. For these reasons, the regimen fed group 1, in which Minafen is used initially and then replaced by Aminogran, is preferred to the other two.

Alkaline Phosphatase↗
PubMed1974

Natural history of phenylketonuria and influence of early treatment.

This study describes the intellectual development of twenty-eight sibling pairs with phenylketonuria in which the index case presented because of retarded development. In twelve pairs (group I) the "second" sibling was born subsequently, and in sixteen (group II) there was a second sibling already in the family at the time of diagnosis of the index case. The intellectual outcome of the second siblings of group II suggests that approximately 1 in 6 or 7 patients with untreated classical phenylketonuria achieves an I.Q. above 70, although with evidence of intellectual impairment. The highly significant difference in intellectual outcome between the early treated second siblings of group I and the late or untreated second siblings of group II demonstrates the beneficial effect of early treatment on the intelligence of affected children.

Child↗
PubMed1973

Childhood obesity.

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Adipose Tissue↗