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Biomedical subjects

M Statter

Publications and source records attributed to M Statter.

33 records · Page 2Linked to original sources
PubMed1981

Reye's syndrome; diagnosis by muscle biopsy?

Three children with Reye's syndrome are described. One child died, the second had mild and transient illness, and the third had recurrent episodes. In all 3 children a muscle biopsy showed pronounced infiltration of the myofibres with fat microdroplets as shown by the oil red O stain and by electron microscopical examination. We suggest that needle biopsy of muscle may be a quick and safe aid to the diagnosis of Reye's syndrome, and may be preferable to liver biopsy in view of the pronounced tendency to bleed in Reye's syndrome.

Biopsy, Needle↗
PubMed1981

Myopathy in hyperornithinemic gyrate atrophy of choroid and retina.

Five patients in two families with hyperornithinemia and gyrate atrophy (HOGA) of the choroid and retina are reported. All patients had marked muscle wasting. Biochemical studies revealed high levels of plasma ornithine and low levels of plasma lysine. Muscle biopsies were performed in four patients and showed subsarcolemmal accumulation of pleomorphic mitochondria and tubular aggregates. These findings suggest that muscle wasting in HOGA is associated with a myopathy that is probably secondary to hyperornithinemia and/or hypolysinemia.

Adolescent↗
PubMed1979

Metabolic studies in two families with hyperornithinemia and gyrate atrophy of choroid and retina.

Studies on the metabolism of selected amino acids were carried out in five patients with gyrate atrophy of the choroid and retina and four obligate heterozygotes. Hyperornithinemia, hyperornithinuria, and hypolysinemia were found in all patients. In one of the patients, the condition was diagnosed as early as 4 years of age. Ornithine loadings in the affected individuals did not induce the expected elevation of plasma glutamic acid and proline. Oral lysine tolerance tests in patients resulted in (1) enhancement of the hyperornithinuria and hyperlysinuria and (2) elevation of plasma lysine levels, which were below values obtained from normal controls. Supplementation of the regular diet with lysine for a period of 1 month increased plasma lysine but had no effect on plasma ornithine concentration.

Adolescent↗
PubMed1976

Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype".

Spasticity and severe psychomotor retardation in a 2-year-old girl, apparently in expression of chronic progressive encephalopathy, was found in association with prolinuria, hydroxyprolinuria and hyperglycinuria. The pattern and levels of these amino acids in plasma proved to be normal, however, as was their intestinal absorption as well as their concentration in cerebrospinal fluid. The proband appears to be homozygous for iminoglycinuria with an apparent inborn defect of the renal tubular transport system specific to these amino acids. An isolated hyperglycinuria, however, was traced in several obligate heterozygotes in this family. The possibility of a more direct causative link between this anomaly and her clinical manifestations is discussed. Where instances of iminoglycinuria occur in association with cerebral pathology of this type, an analogous impairment of a correspondingly specific cerebral amino acid transport system is postulated.

Amino Acid Metabolism, Inborn Errors↗
PubMed1975

A therapeutic trial of fresh plasma infusions over a period of 22 months in two siblings with Hunter's syndrome.

The clinical and biochemical changes following long-term treatment with infusions of fresh plasma over a period of 22 months are outlined in two siblings with the mild type of Hunter's syndrome. During the first six months of treatment, the clinical status of both siblings was characterized by accelerated growth, reduction in the size of liver and spleen, improvement in joint movement and diminution in the tendency to respiratory infections. During the remaining 16 months, these changes were less conspicuous. The first plasma infusion resulted in parallel, albeit transient, changes in pattern of urinary glycosaminoglycan excretion, manifested mainly by an increase in the cetylpyridinium-chloride-nonprecipitable glycosaminoglycan fraction. The main factor contributing to this increase was found to be heparan sulfate. After subsequent plasma infusions, however, the basic pattern of urinary glycosaminoglycan excretion remained the same as before treatment, although convincing clinical changes were still evident for at least the first six months in both siblings.

Blood Transfusion↗