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Biomedical subjects

D Ketting

Publications and source records attributed to D Ketting.

At least 55 records · Page 3Linked to original sources
PubMed1978

Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts.

The organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency is described. In addition to 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids, substantial amounts of glutaric and adipic acids were repeatedly observed. 3-Methylcrotonic acid and possibly one of its isomers was found to be formed artificially from 3-methylglutaconic acid.

Acyl Coenzyme A↗
PubMed1978

The variability of metabolite excretion in propionicacidaemia.

Random urine samples from eight patients with propionicacidaemia were analyzed by gas chromatography and mass spectrometry in order to see if a consistent metabolite pattern with a high diagnostic value could be found. However, wide variations were observed. The presence of 3-hydroxypropionate and/or methylcitrate were considered to be diagnostic of propionyl-CoA carboxylase deficiency. In addition, samples from ketotic periods frequently contained 3-hydroxy-n-valerate and 3-oxo-n-valerate.

Amino Acid Metabolism, Inborn Errors↗
PubMed1978

Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.

Two patients with methylmalonic acidaemia due to methylmalonyl-CoA mutase deficiency were studied for several years. Both exhibited at least two attacks of severe ketoacidosis, during which they excreted, in addition to methylmalonic acid, a number of abnormal compounds: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, citraconic acid and N-tiglyglycine. These compounds represent partly intermediary metabolites from the isoleucine degradation pathway and partly secondary metabolites of propionyl-CoA and tiglyl-CoA.

Acidosis↗
PubMed1977

(2-Ethoxyethoxy)acetic acid: an unusual compound found in the gas chromatographic analysis of urinary organic acids.

An unknown acidic compound was detected in a number of urine samples from patients with a suspected metabolic disorder and some patients treated with chemotherapy. The structure of this compound has been characterized as (2-ethoxyethoxy)acetic acid, using a gas chromatography/mass spectrometry/computer system. The authentic compound was synthesized and compared with the unknown. Urinary (2-ethoxyethoxy)acetic acid is assumed to be formed endogenously from an exogenous precursor, probably 2-(2-ethoxyethoxy)ethanol.

Acetates↗
PubMed1977

Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles.

A patient suffering froma mitochondrial myopathy leading to severe insufficiency of the voluntary muscles is described. Severe cerebral damage was present. Major biochemical symptoms were extreme lactic acidemia, hypophosphatemia and hyperphosphaturia, and generalized aminoaciduria, renal glucosuria, and polyuria. Muscular insufficiency resulted in lethal asphyxiz. All therapeutic trials were insufficient. The patient and two other children of the same family with a similar clinical picture all died before the 4th month of life. The condition is probably inherited in an autosomal recessive way. A defective respiratory chain in the mitochondria of the striated muscles is proposed as the underlying mechanism. Cytochromes aa3 were absent, b was nearly absent, but cc1 was present. In heart muscle cytochromes aa3 and b were at the level of the controls.

Cytochromes↗
PubMed1976

Gas chromatographic determination of urinary vanilglycolic acid, vanilglycol, vanilacetic acid and vanillactic acid-chemical parameters for the diagnosis of neurogenic tumours and the evaluation of their treatment.

A gas chromatographic method is described for the determination of urinary vanilglycolic acid, vanilglycol, vanilacetic acid and vanillactic acid as their trimethylsilyl derivatives. These metabolites are chemical parameters for the dignosis of neurogenic tumours. Their determination is especially recommended in order to evaluate the effect of the therapy. Results in normals and controls are given. Data in a number of selected patients with neuroblastoma, ganglioneuroma and phaeochromocytoma are presented and discussed.

Adolescent↗
PubMed1976

D-Glyceric acidemia in a patient with chronic metabolic acidosis.

A patient is described with glyceric acidemia and glyceric aciduria. The main clinical problems in infancy were severe metabolic acidosis and failure to thrive. The patient needs permanent treatment with bicarbonate. Hyperglycinemia, as described in the first case discovered elsewhere, was not present. The glyceric acid was found to have the D-configuration, as analyzed by capillary gas chromatography of its di-O-acetyl-l-menthyl ester. The abnormality may result from a defect in serine metabolism.

Acidosis↗
PubMed1976

Glutaric aciduria type II: report on a previously undescribed metabolic disorder.

A report is given on a hitherto undescribed metabolic disorder, characterized clinically by fatal neonatal acidosis, hypoglycemia and a strong 'sweaty-feet' odour. Biochemical features were a massive urinary excretion of glutaric and lactic acids. Isobutyric, isovaleric and alpha-methylbutyric acids were also greatly increased, followed by adipic, ethylmalonic, alpha-hydroxybutyric, n-butyric, beta-hydroxybutyric, sebacic, suberic, propionic, alpha-hydroxyisovaleric and hexanoic acids. The serum level of glutaric acid was highly elevated. In the serum there were also abnormal levels of lactic, alpha-hydroxybutyric, adipic, suberic, p-hydroxyphenyllactic, myristic, hexadecenoic, palmitic, oleic and stearic acids. Plasma lysine and valine were also elevated. Degradation of 14C-labelled glutaric acid and 14C-labelled branched-chain amino acids, alpha-ketoisovaleric and alpha-ketoisocaproic acids in intact fibroblasts was decreased, whereas that of pyruvic acid was normal. The defect was tentatively supposed to be localized at the level of the metabolism of a range of acyl-CoA compounds. The name glutaric aciduria 'type II' is proposed for the patient's disease.

Amino Acids↗
PubMed1975

Permanent chemical phenylketonuria and a normal phenylalanine tolerance in two sisters with a normal mental development.

A positive ferric chloride reaction was found at routine examination of the urine of a 14 year old mentally normal girl, admitted for complaints of headache and other meningitis-like symptoms. It turned out that she excreted permanently increased amounts of phenylpyruvic, phenyllactic and o-hydroxyphenylacetic acids, but phenylacetic acid (free plus conjugated) was normal. Fasting serum phenylalanine was not increased nor was urinary phenylalanine. On loading with L-phenylalanine (100 mg/kg) a normal serum phenylalanine response followed, but urinary phenylpyruvic, phenyllactic and o-hydroxyphenylacetic acids increased further. Phenylacetic acid responded too, but remained in the normal range. In addition to the above-mentioned abnormalities the urine contained a still unidentified abnormal acid, which also increased after loading with phenylalanine. Her 12 year old healthy sister showed the same chemical abnormality. Two older brothers and the parents had normal excretions. The enzyme defect has not been identified. As a possibility the defective decarboxylation of phenylpyruvic acid is proposed.

Adolescent↗
PubMed1975

Tyrosinemia and tyrosyluria in healthy prematures: time courses not vitamin C-dependent.

Tyrosyluria and for a part also tyrosinemia were studied in 60 healthy prematures of various birth weights and gestational ages. The first analyses were performed between the 6th and the 14th day after birth. A normal milk diet was given and the protein-intake was between 3 and 4 g/kg. After the first collection of urine half the patients received extra ascorbic acid, 100 mg/kg daily. Urinary analyses of tyrosine and p-hydroxyphenyl metabolites were performed once a week, until the excretion of p-hydroxyphenylpyruvic plus p-hydroxyphenyllactic acids was lower than 5 mmoles per gram creatinine. In 22 out of the 60 prematures (or 37%) a tyrosyluria of more than 5 mmoles/g creatinine and in 19 out of 44 (43%) patients analysed serum tyrosine was higher than 5 mg/100 ml at first analysis. No inverse correlation between tyrosyluria and tyrosinemia on the one hand and birth weight and gestational age on the other hand existed. But in children with a delayed intra-uterine development the incidence of tyrosyluria was higher as prematurity was more pronounced. Ascorbic acid had no effect on the rate of disappearance of tyrosyluria. It was concluded that the addition of extra vitamin C to the diet of prematures is not useful for the normalization of tyrosine metabolism.

Animals↗