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Biomedical subjects

F Rocchiccioli

Publications and source records attributed to F Rocchiccioli.

At least 55 records · Page 3Linked to original sources
PubMed1986

Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.

A six-month-old girl with chronic lactic acidosis and neurological deterioration is described, who underwent a sudden severe decompensation during her initial neurological investigations. She responded dramatically to biotin therapy. The diagnosis of late onset multiple carboxylase deficiency due to biotinidase deficiency was confirmed. This entity should be considered in the differential diagnosis of hyperlactacidemic encephalopathies.

Acidosis, Lactic↗
PubMed1986

Efficiency of substitution of 2-ketoisocaproic acid and 2-ketoisovaleric acid in the diet of normal and uremic growing rats.

Effects of various intakes of the ketoanalogues of leucine (KICA) and valine (KIVA) on growth, nitrogen, and urea excretion were examined and compared to those of an optimal intake (A) of the corresponding amino acids. Diet KICA and KIVA contents varied from 1 to 4 times A. In controls, growth was significantly reduced with equimolar substitution, corrected with twice A, and unchanged at higher levels. Doubling KICA corrected growth except with substantial anorexia. In uremic rats fed KIVA, growth was corrected at twice A. Low-KICA diets reduced plasma-leucine level; higher KICA diets normalized plasma leucine and revealed branched-chain amino acid (BCAA) antagonism. Changes in 2-ketoacids were unrelated to those of BCAA. In uremia, KICA decreased plasma and urinary urea without changing nitrogen retention. Ketoacid substitution for amino acids was 50% efficient in normal rats and not altered by uremia. BCKAs, specifically KICA, could modify urea metabolism.

Animals↗
PubMed1986

Neonatal adrenoleukodystrophy.

Nine cases of neonatal adrenoleukodystrophy are described. All patients had abnormal facial features, moderate to severe hypotonia, hepatomegaly, and retinitis pigmentosa. The clinical course was rapidly progressive in six cases and more protracted in three others. Biological signs of adrenal insufficiency were present in five cases. CT scan showed a demyelinating process in four patients. Trilamellar inclusions were found in the liver of four cases and dark and complex lipidic inclusions in three other cases. In the three necropsied patients there was severe alteration of the white matter involving particularly the cerebellum in two cases. Gyral and cytoarchitectonic disturbances were absent in all three cases. Increased plasma levels of very long chain fatty acids (8/8), phytanic acid (7/8) and bile fluid trihydroxycoprostanic acid (2/4) confirmed the deficiency of multiple peroxisomal enzymes. Clinical, histopathological and biochemical findings of these nine cases are compared to those reported in other neonatal adrenoleukodystrophy cases and to those of other neonatal peroxisomal disorders, that is cerebro-hepato-renal syndrome of Zellweger and infantile Refsum's disease.

Adrenal Cortex↗
PubMed1986

Medium- and long-chain dicarboxylic aciduria in patients with Zellweger syndrome and neonatal adrenoleukodystrophy.

This study reports that patients with neonatal adrenoleukodystrophy and Zellweger syndrome excrete a very peculiar pattern of organic acids. Dicarboxylic acids with an even number of carbon atoms (adipic, suberic, sebacic, 2- and 3-hydroxy-sebacic, hexadecanedioic), as well as with an odd number of carbon atoms (pimelic, azelaic, un-, tri-, and pentadecanedioic) were found in excess in the urines of six patients with neonatal adrenoleukodystrophy and one with Zellweger syndrome. The accumulation of dicarboxylic acids, reflecting an impairment of their beta-oxidation in mitochondria and/or peroxisomes, thus appears as an additional useful marker of these peroxisomal diseases.

Abnormalities, Multiple↗
PubMed1986

Pulmonary lipogranulomatosis due to excessive consumption of apples.

A 55-year-old man was admitted for treatment of unstable angina. Chest x-ray films showed a micronodular pattern, but there were no respiratory symptoms. Autopsy, carried out following sudden death, revealed pulmonary granulomas surrounding lipid crystals. The same crystals were found elsewhere: lymph nodes, spleen, liver, adrenal glands, and were composed of aliphatic hydrocarbons of vegetal origin, mainly C29H60. Investigation of the case history revealed excessive consumption of apples, to which the hydrocarbon deposition could be attributed, since C29H60 is a natural constituent of the cuticular wax in apple peel. This is a unique example of pulmonary granulomatosis due to storage of vegetal hydrocarbons of dietary origin.

Dietary Fats↗
PubMed1985

Spin state studies on cytochrome P-450 in liver microsomes from obese and diabetic animals.

The spin state of liver microsomal cytochrome P-450 from obese mice and streptozotocin-diabetic mice and rats has been studied both by the temperature and the type I substrates-induced spectral changes. The high spin cytochrome P-450 is significantly decreased in these animals. Moreover absolute spectra indicate that low spin cytochrome P-450 is stabilized in streptozotocin induced-diabetic animals. Thus the physiopathological state may modify the in vivo spin state of cytochrome P-450 and modifications of the microsomal fatty acid composition might contribute to these changes.

Animals↗
PubMed1985

Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome.

An increasing number of reports indicate that patients with some inherited metabolic diseases may have symptoms resembling those of Reye syndrome. We describe two siblings who developed a Reye-like syndrome at ages 16 and 18 months, respectively, after a viral illness and salicylate therapy. Both had fasting hypoglycemia and hypoketonemia. At the time of the acute episode and after ingestion of a medium-chain triglyceride load, one of them excreted large amounts of abnormal metabolites derived from the omega- and (omega-1)-oxidation of medium-chain fatty acids. Medium-chain acyl-CoA dehydrogenase activity was lower than 20% of control values in fibroblasts from both patients. This enzyme defect should be considered in children with a Reye-like syndrome with these distinctive manifestations.

Acyl-CoA Dehydrogenase↗
PubMed1985

Capillary gas-liquid chromatographic-mass spectrometric measurement of very long chain (C22 to C26) fatty acids in microliter samples of plasma.

In order to quantify accurately the plasma content of very long chain fatty acids, we have developed a selected ion monitoring gas-liquid chromatographic-mass spectrometric micromethod which allows all of these acids (22:0, 24:1, 24:0, 26:1, and 26:0) to be determined simultaneously in the same 0.5-ml plasma sample; 17:0 and 27:0 fatty acids are used as assay internal standards. For plasma samples in the range equivalent to the various very long chain fatty acid physiological concentrations, assay precision was +/- 2%. The present method has been successfully applied to the biological recognition of patients with adrenoleukodystrophy, their heterozygote relatives, and of cerebro-hepato-renal syndrome and neonatal adrenoleukodystrophy.

Adrenoleukodystrophy↗
PubMed1984

Microdetermination of 2-ketoglutaric acid in plasma and cerebrospinal fluid by capillary gas chromatography mass spectrometry; application to pediatrics.

Quantification of 2-ketoglutaric acid in plasma and cerebrospinal fluid as its O-trimethylsilyl++-quinoxalinol derivative by gas chromatography chemical ionization mass spectrometry is described with benzoylformic acid as internal standard. This technique, with ammonia as reactant gas, only detects the protonated molecular ions. The recovery of 2-ketoglutarate from perchloric-deproteinized plasma is 99.7 +/- 1.2%. The normal value of 2-ketoglutarate in children is 8.6 +/- 2.6 mumol l-1 (mean +/- standard deviation) in plasma (n = 25) and 4.8 +/- 1.4 mumol l-1 in cerebrospinal fluid (n = 20). The plasma level of 2-ketoglutarate is correlated with urea concentration (r = 0.96; p less than 0.001) in healthy subjects and in patients with chronic renal insufficiency. Increased values are found in one case of pyruvate carboxylase deficiency, and inconstantly in diabetes; physiological variations are described during fasting and after an oral glucose load.

Child↗
PubMed1984

Mass spectrometric identification of abnormal aromatic compounds in the urine of a child with Reye's like syndrome.

The urine of a young child with hypoglycemia and a Reye's like syndrome contained an excess of unusual aromatic products with a three carbon chain, phenylpropionylglycine and 3- and 4-(hydroxyphenyl)propionic and 3-(3-methoxy-4-hydroxyphenyl)propionic acids, as well as of organic acids usually found in fatty acid beta-oxidation defects: the mono- and dicarboxylic acids derived from the respective (omega-1) and omega-oxidation of C6 to C10 fatty acids.

Fatty Acids↗
PubMed1982

Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency.

A 6-month-old girl with vomiting, hypotonia and motor retardation was found to have elevated blood lactate, pyruvate, and branched chain amino acids associated with ketoglutaric aciduria. The combination of a congenital lactic acidosis with a variant form of maple syrup urine disease and ketoglutaric aciduria suggested a defect of a single component, common to pyruvate dehydrogenase, to branched chain ketoacid dehydrogenase, and to alpha-ketoglutarate dehydrogenase. Dihydrolipoyl dehydrogenase is the common component (E3). The three enzyme activities and the E3 component activity were found to be reduced in liver and cultured fibroblasts, thus confirming that a single defect of this component can result in a multiple deficiency involving several oxidative decarboxylation reactions.

Acidosis↗
PubMed1981

Quantitation of 2-ketoacids in biological fluids by gas chromatography chemical ionization mass spectrometry of O-trimethylsilyl-quinoxalinol derivatives.

A very sensitive and specific method of 2-ketoacid determination in various biological fluids using gas chromatography chemical ionization mass spectrometry of O-trimethylsilyl-quinoxalinol derivatives is described. After derivatization with o-phenylenediamine in acidic medium and extraction, the 2-ketoacids, and the 2-ketovaleric acid used as internal standard, are silylated and resolved on a capillary column and their concentrations automatically determined by monitoring the m/z values corresponding to their respective protonated molecular ions, using ammonia as reactant gas. The detection limit is below 50 ng ml-1 of each 2-ketoacid. The recoveries of 2-ketoacids from urine and plasma were between 97 and 104%. Problems encountered with interfering substances were tested for and discussed. This method has been applied successfully to various metabolic disorders characterized by an accumulation of aliphatic 2-ketoacids. The metabolic interrelationship of branched chain 2-ketoacids and other compounds, especially pyruvate, is discussed.

Amniotic Fluid↗
PubMedDate not supplied

The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma.

Clinical, radiological, histological and biochemical aspects of two cases of cerebro-hepato-renal syndrome (CHRS) are reported. CT scan disclosed a demyelinating process and gyral abnormalities reflecting the observed neuropathological findings. Trilamellar and lamellar inclusions were found in brain astrocytes, hepatic mesenchymal and adrenal cells. The morphologic features of these inclusions are similar to those observed in childhood adrenoleukodystrophy, neonatal adrenoleukodystrophy and infantile Refsum's disease. In the two CHRS patients, increased plasma levels of very long chain fatty acids (C26:1, C26:0) and phytanic acid were in the same range as those observed in seven other instances of neonatal adrenoleukodystrophy. The presence of increased plasma levels of phytanic acid in these disorders suggests that phytanate oxidase activity is, at least, partially located in peroxisomes.

Adrenal Cortex↗