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The authors studied erythema and hyperpigmentation produced on the skin by psoralen and bergapten extracted from root of Brosimum Gaudichaudii Trécul. They used different concentrations exposed at 15, 30, 45 and 60 minutes to black tube and reading at one, two, three, five and 10 days. Psoralen produced hyperpigmentation more consistently than did bergapten. Erythema and pigmentation were present after 72 hours. The effect of psoralen is more intense than that of bergapten and the most effective irradiation occurred with 60 minutes exposure. [ABSTRACT FROM AUTHOR]

Platyspondyly will be defined and its eriology discussed. The condition may be congenital or manifests itself later in life (osteochondrodysplasia). It can be caused by metabolic, endocrine or haematological diseases als well as by infections, tumors or trauma. The following aspects are important for classifying etiology and pathogenesis: age of the child, density and shape of the vertebra, number of affected vertebral index and vertebral disc index. Examples for various forms of platyspondyly will be presented. [ABSTRACT FROM AUTHOR]

Provides information on primary exogenous obesity. Criteria used to defined obesity in humans; Prevalence of primary exogenous obesity in the adult and children population; Clinical approaches to the problems of obesity; Observation of a need for a treatment of primary exogenous obesity which will retard multiplication of adipose cells during the critical period of infancy without compromising the growth and proper development of the liver, kidney, brain, and other body organs.

Discusses magnesium deficiency in the young child. Magnesium reserves in the developing fetus and in the newborn; Pertinence to feeding of the neonate; Nutritional requirements; Magnesium deprivation syndrome of growth; Metabolic disturbances and pathology; Diagnosis; Clinical manifestations; Magnesium in excess; Preventing magnesium deficiency.

Apparently new information about a metabolic abnormality has been obtained by measuring biochemical and respiratory responses to controlled exercise in a patient with abnormal mitochondria in muscle fibres. A male patient (49 years old) presented with bilateral ptosis of 15 to 20 years' duration and weakness for one to two years. Biopsies from the deltoid and triceps muscles were subjected to histological, histochemical, and electron microscopical examination. Routine histology showed only minor changes; 2-5% of muscle fibres had pale borders in which there were aggregates of mitochondria and 1-5% of fibres showed atrophy. Histochemical examination showed increased activity of succinic dehydrogenase in mitochondria and lactate dehydrogenase in cytoplasm. Electron microscopy showed crystalline inclusions in many subsarcolemmal mitochondria. Metabolites were studied during and after exercise on an ergometer and revealed remarkable differences from normal. Blood lactate rose to 12·5 μmol/ml and pyruvate to 0·39 μmol/ml compared with up to 4·0 and 0·16 μmol/ml respectively in controls exercising to a comparable percentage of capacity. Concentrations of ketone-bodies and free fatty acids fell during and after exercise, while they rose in the controls. These observations imply a major mitochondrial defect which causes dramatic biochemical changes in fuel supply in blood during exercise. The changes suggest that fat metabolism was accelerated (in this patient) and was related to a block of carbohydrate utilization as fuel. [ABSTRACT FROM AUTHOR]

Screening of filter paper urine specimens for metabolic and transport disorders has been conducted in Massachusetts for the past few years. Disorders not identifiable by blood screening are detectable by this program. Specimens are obtained routinely by the parents on 3- to 4-week-old infants and mailed to a central laboratory. Testing is performed on discs punched directly from each specimen utilizing several methods of paper chromatography. Cystinuria, histidinemia, Hartnup disease, and iminoglycinuria (Group I) is each approximately as frequent as is phenylketonuria (PKU) in Massachusetts (1:14,219). Other disorders identified, including the hyperglycinemias, argininosuccinic aciduria, hyperlysinemia, hyperornithinemia, and the Fanconi syndrome (Group II) each has a frequency that seems to be no greater than 1:200,000 of the population. Transient abnormalities, such as tyrosinuria-tyrosyluria, generalized hyperaminoaciduria, iminoglycinuria, cystine-lysinuria, and others have been noted. Also diaper creme or fetal contamination of specimens as well as the ingestion of formulas supplemented with DL-methionine, of ampicillin, or of n-acetylcysteine may result in unusual amino acid patterns. A program such as this requires multiple testing procedures, access to proper evaluative and investigative facilities, and cooperation among the various participating groups. The total expense of this program is about $80,000 per year or approximately $1.00 per infant tested. Pediatrics, 49:825 1972, SCREENING, METABOLIC DISORDERS, TRANSPORT DISORDERS, NEONATAL URINE TESTING, PAPER CHROMATOGRAPHY. [ABSTRACT FROM AUTHOR]

A new inborn error of metabolism, characterized by urinary excretion of substantial amounts of β-hydroxyisovaleric acid and β-methyl-crotonylglycine, is described. The disorder is most likely due to a defect in the biotin-dependent enzyme β-methylcrotonyl-CoA carboxylase in the leucine degradation pathway. The patient, a 4 1/2-month-old girl, suffered from neurological symptoms similar to those of Werdnig-Hoffmann's disease. No episodes of acidosis could be detected. In periods the urine had a peculiar odor, like that of cat's urine. Relatively large doses of biotin (0.25 mg/day) did not influence the condition. On a diet containing the minimum requirement of leucine, the daily excretion of β-hydroxyisovaleric acid dropped from 400 mg to about 50 mg and β-methylcrotonylglycine from 100 mg to 50 mg. However, the clinical course was unaltered and the patient died at 9 months of age from bronchopneumonia. Biochemically, as well as clinically, the findings are distinctly different from previously described errors in the leucine metabolism. [ABSTRACT FROM AUTHOR]

Presents guidelines for physicians on the treatment of metabolic diseases in children. Case studies of patients with different metabolic diseases; Categories of biochemical determinations; Outline of diagnostic approach.

Although a defect in catecholamine metabolism has been suggested in familial dysautonomia, the specific nature and extent of this abnormality has not been defined. Highly specific and sensitive assay techniques were used to measure the excretion of vanillylmandelic acid (VMA), 3-methoxy-4-hydroxyphenylethyleneglycol (HMPG), total metanephrines (TM), normetanephrine (NM), and homovanillic acid (HVA) of 52 dysautonomic patients and 180 normal subjects. Twenty parents of dysautonomic patients and age-matched control subjects were studied similarly. Patients with familial dysautonomia were found to excrete elevated quantities of HVA, diminished quantities of VMA and HMPG, and normal amounts of TM and NM in comparison with normal subjects. The excretion of the sum of the deaminated catecholamine metabolites proved to be more aberrant in familial dysautonomia than any other biochemical parameter measured. The findings of this study are more compatible with an abnormality in catecholamine synthesis rather than in release. Parents of dysautonomic subjects excreted normal amounts of vanillylmandelic acid and homovanillic acid. [ABSTRACT FROM AUTHOR]

Methylmalonicaciduria is an inborn error of metabolism characterized by protein intolerance, neonatal or infantile ketoacidosis, long chain ketonuria, and by the accumulation of large amounts of methylmalonic acid (MMA) in blood and urine. The present study examines the metabolic basis for these features in a young boy with the vitamin B[sub 12]-dependent variant of this disorder. A diet containing 5 gm of protein per kg body weight per day resulted in transient ketoacidosis, long chain ketonuria, and increased methylmalonicaciduria. Isoleucine, valine, methionine, and threonine, all known MMA precursors, were responsible for this protein intolerance. Oral loads of each of these amine acids resulted in equimolar 1,000 µg increases in urinary MMA. Valine and isoleucine also precipitated mild ketoacidosis and long chain ketonuria. Injections of vitamin B[sub 12] (l000 µg per day) promptly lowered urine MMA by 70% and partially corrected the defect in propionate or methylmalonate oxidation found in the patient's leucocytes or platelets. While receiving vitamin B[sub 12], the clinical toxicity of a valine lead was abolished and its biochemical effects significantly modified. These findings demonstrate that the observed protein intolerance and ketoacidosis in patients with methylmalonicaciduria are direct results of the primary block in methylmalonate catabolism and that vitamin B[sub 12] acts by overcoming, in part, this metabolic block. These conclusions imply that children with this disorder should respond to dietary protein restriction and/or vitamin B[sub 12] supplementation, a regimen on which our patient has thrived for over 2 years. [ABSTRACT FROM AUTHOR]

A term, male neonate, born of a consanguineous marriage, developed progressive organic central nervous system disease in association with hyperprolinemia and iminoaciduria. He died at 3 months of age with bronchopneumonia, mild hydronephrosis, focal acute pyelonephritis, and slight dilatation of the cerebral ventricles. Brain sections showed vacuoles in cerebral and cerebellar white matter and evidence of dysmyelination in the cerebrum. Members of the family were examined for evidence of nephritis, pyelonephritis, congenital uropathy, and deafness. Significant incidence of each entity was found, with instances about equally distributed between maternal and paternal lines. Markedly elevated serum proline values were observed for the proband and the mother, and moderate elevations were found for the father and for the six other relatives. The pattern of hyperprolinemia in this kindred suggests that it is inherited as an autosomal recessive trait. Data from this and four other families with Type I hyper-prolinemia failed to correlate neurologic disease with elevated serum proline levels. [ABSTRACT FROM AUTHOR]

Urinary lipids extracted from normal subjects contain only small quantities of ceramide (CTH) and ceramide dihexoside (CDH). Although there is some overlap, two urinary glycolipid excretory patterns may be distinguished within families affected by Fabry's disease. Type I, found in all affected males, is marked by a striking increase of CTH and a slightly high CDH output. Type II, found in female carriers, consists of a slight increase in both CTH and CDH. Since the concentration of urinary glycolipids does not change with age, examination of urinary lipids may aid in confirming the diagnosis of Fabry's disease and in predicting whether an apparently normal male will ultimately develop clinical manifestations. [ABSTRACT FROM AUTHOR]

Explores the clinical and experimental work dealing with the question of how a metabolic disturbance may produce neurologic disturbances. Inhibition of 5-hydroxytryptamine synthesis; Alterations of white matter proteins; Myelin in phenylketonuria.

Explains the genetic causes of inborn errors of metabolism. Inability to digest protein as a result of a recessively inherited condition; Pathways of glycine metabolism in its reaction with formytetrahydrofolic acid; Mechanism by which glycine is caused to accumulate.

Ichthyosiform dermatoses represent deviations from smooth supple skin to dry scaly skin. Ichthyosis comes from the Greek ichthys meaning fish, although the resemblance of human skin to fish skin in these conditions is, at best, superficial. In this group of skin disorders, the scales are attached at the center and do not overlap like fish scales. Some patients have another form of ichthyosis, in which scale formation is not really fish-like at all. Although the term ichthyosis is a misnomer, nevertheless, for historical reasons and to minimize confusion, it will be retained in this article.

In mammalian epidermis, the synthesis of melanin within melanosomes, the specialized granular cytoplasmic organelles of melanocytes, represents but one phase in a continuum of complex cytologic events that ultimately depend upon the functional and structural integration of melanocytes and keratinocytes achieved during embryonic development throughout life. Melanosomes synthesized by melanocytes are transferred to keratinocytes and transported to the epidermal surface as the latter cells undergo cornification.

The article criticizes some principles of mass screening programs for inborn errors of metabolism. Aside from the preventive role of screening, it also permits early detection of poorly understood diseases. It also provides an opportunity to study the diseases and elucidate their pathophysiology. When considering any screening program, the test must be effective, easy to perform, and oversensitive to identify all the cases.

The article focuses on the detection of metabolic disorders among mentally retarded children through the use of paper spot tests. Urine specimens were obtained from mentally retarded children. The specimens have been tested for the presence of phenylpyruvic acid, galactose and cystine. Three children with phenyl-ketonuria have been identified.

The article focuses on the assessment of the capabilities of children with Down syndrome in metabolizing and absorbing Vitamin A in a normal manner. The researchers have attempted to determine whether or not certain abnormalities of ectodermal features of the subjects are related to Vitamin A misuse or the Vitamin A metabolism-thyroid function relations. Furthermore, it has been assessed that it seems the subjects do have a lower absorptive capacity of Vitamin A.

The article discusses the implication of heterozygosity for hereditary metabolic errors on mental deficiency. A detail examination of heterozygote activity shows that their is a possibility it may cause abnormality of metabolism. Another possible significance of hereditary metabolism errors, is in the case of hemoglobin synthesis were genes from more than one locus may affect the formation of enzyme.

The article reports on the prevalence of aspartylglycosa minura in Sweden. For several years urinary samples for assay of glycosaminoglycans have been sent from many hospitals in Sweden to laboratory. High-voltage electrophoresis has been used with good results by several authors for the screening of urinary amino acids in metabolic disorders. Urine samples from 668 Swedish children with progressive psycho-motor retardation and in some cases, skeletal changes and vacuolated lymphocytes, were assayed with high-voltage paper electrophoresis.

This article presents a study to determine if uric acid metabolism was involved in some inherited conditions known to give rise to mental retardation. Both male and female controls were drawn from the same population as the test cases. All were in good health and free from any known metabolic diseases. Ten adult female and nine adult male phenylketonuric patients were in good health and untreated. Serum uric acids were estimated on fresh serum by the procedure described in Sigma Technical Bulletin No. 680. This involved the reduction of phosphotungstate by uric acid and the colorimetric estimation of the resulting blue complex. Urine uric acid was determined on nine adult phenylketonurics using essentially the same method but on a five-fold dilution of urine.

Offers observation on the role of excessive urinary excretion of nitrogenous compounds in the formation of metabolic disorders which results to mental deficiency. Association of biochemical abnormalities with mental defect; Analysis of the amount of urinary excretion of nitrogenous compounds; Description of the approach used as a screening procedure for new abnormalities.

An experimental study was performed to determine the characteristics of the stimulus necessary to produce the dumping syndrome. It was apparent that in order for both the vasomotor and gastrointestinal symptoms of the dumping syndrome to become manifest the stimulus must be hypertonic, absorbable and metabolically active. Our study confirmed that the dumping syndrome is a metabolic as well as a mechanical disturbance and established a rationale for the medical treatment of this surgical complication. [ABSTRACT FROM AUTHOR]

From a population of 240 postcholecystectomy patients, 13 randomly selected cases submitted their morning fasting blood for biochemical survey and testing. It was found that serum cholesterols were minimally elevated in a few of these patients; that the majority of these patients had been or were overweight; that the serum insulin levels in a fasting state of all these patients were high normal or above the usually accepted normal range. It was concluded that in the patient sample studied, the existence of gallstones and gallbladder disease is due to a metabolic defect involving lipid and. [ABSTRACT FROM AUTHOR]

A 43-year old Caucasian woman with symptoms and physical findings of porphyria cutanea tarda was noted to have increased uro- and coproporphyrins in the urine and liver tissue which fluoresced with ultraviolet light. She had an elevated serum iron with excessive saturation of transferrin and marked increase in hepatic iron. Absorption of Fe59 was increased to 55 per cent. She had an improvement in symptoms and physical and laboratory findings associated with 22 phlebotomies over a 15-month period of observation. [ABSTRACT FROM AUTHOR]

Presents information on lesions involving the oral mucosa. Description of the alimentary canal; Characters and origins of lesions in the oral cavity; Manifestation by metabolic diseases of gingiva and the structures of the teeth.

Presents a study on the management of the obese patient. Categories of obese patients; Common factors among obese patients; Information on adult patients accepted in the study for weight reduction; Most important factors in maintaining the obesity of the patients studied.

Presents the results of the free achlorhydria with ambulatory patients and levorotary hyscyamine as the anticholinergic agent. Selection of patients with radiographically verified duodenal deformity, niche, or both and gastric niche seen in private practice; Responses of patients to different treatment regimens; Demonstrations that all uncomplicated peptic ulcerations can be healed in the hospitalized patient.

Presents a case study on the changes produced in the serum lipid partitions of patients with metabolic diseases. Increase in the phospholipids of patients with myxedema; Role of cholesterol in the transportation of fatty acids in the body; Association of nephrotic syndrome with the diminished concentration of serum protein.

Overweight and elevated blood pressure are the two most common impairments found among the applicants for life insurance. The Build and Blood Pressure Study, 1959, provides home office underwriters with the most comprehensive and reliable information ever assembled about the effects on mortality of variations in build and blood pressure. As compared with the results of earlier studies, this investigation shows distinctly lower mortality on moderate underweights, somewhat lower mortality for tall overweights, substantially the same relative mortality as in earlier studies for other overweights, and markedly higher relative mortality for slight and moderate elevations in blood pressure. While these findings for elevated blood pressure are contrary to the impressions of many physicians, it is necessary to keep in mind that the criteria for standard life insurance are quite different from those in clinical medicine; persons with elevated blood pressure may be subject to enough excess mortality to warrant the charging of an extra premium, even though they do not require medical treatment. [ABSTRACT FROM AUTHOR]

The effect of the oral contraceptive on previously asymptomatic variegate porphyria is described. The importance of the presence of X-porphyrins in variegate porphyria is discussed. [ABSTRACT FROM AUTHOR]

Unusual mottled pigmentation present since birth in a girl aged 16 is described. Its pattern seems to differ from any previously reported. Through 3 generations in the direct ascending line generalized lentiginosis has been present. The hereditary background of pigmentary changes in the girl is discussed. [ABSTRACT FROM AUTHOR]

This article discusses relationship between metabolic disorders and hair growth. The cosmetician not uncommonly strives to establish the medical value of his offerings and the dermatologist is at pains to provide medicaments cosmetically acceptable to his patient. Quite apart from its cosmetic interest the hair is of importance to clinicians as an indicator of systemic diseases. Chief of these is malnutrition, which affects the rapidly dividing cells of the hair root at an early stage. More specific types of malnutrition may also cause impairment of hair growth.

One hundred consecutive coloured and 100 consecutive white European (light skinned causasoids-LSC) patients were examined to determine the incidence of buccal pigmentation. In the coloured patients it was 38% and in the LSC patients 5%. In these 5 LSC patients general examination and investigation revealed none of the disorders usually associated with buccal pigmentation, which cannot therefore be regarded as necessarily a sign of systemic disease, notably Addison's disease. In coloured patients the presence of buccal pigmentation is rarely of diagnostic significance. [ABSTRACT FROM AUTHOR]

Oxidised and reduced glutathione seem to decrease the initial severity of the porphyria that is induced by griseofulvin. For them to have a marked effect they must be given as soon as the animals are exposed to the drug and they are only effective in the early stages of intoxication ; any curative action on established porphyria is not obvious. Neither form of glutathione depresses the level of faecal protoporphyrim produced initially, but both lessen the amount excreted after approximately 100 hours. [ABSTRACT FROM AUTHOR]

Mild denudation of a dark skin was shown to induce pigmentation comparable with that of sunburn. The effects are not considered to be due to stimulation of melanoblasts alone. The epidermis is believed to play an active part in altering the melanin contained within its cells. [ABSTRACT FROM AUTHOR]

Cites a clinical study of girl, aged 56 having Sclerodermia Dermatomyositis. Medical history of the patient; Examinations made to the patient; Therapeutics used for Sclerodermia Dermatomyositis.

This article presents several case studies related to skin diseases. In November 1940 shortly after the death of a woman's husband, lesions appeared on the right thigh and shortly afterwards on the left thigh. Individual lesions disappeared, leaving a faint pigmentation, but recurred in the same area. The eruption was present on the anterior aspects of both thighs. Another case study is related to a 71-year-old man, who developed lichen planus on the forearms and legs, and a lump on the back of his right hand. When first seen the lump was three months old. It was raised above the surrounding skin, and consisted of a firm border and central horny mass. The clinical diagnosis of squamous carcinoma was confirmed by biopsy.

A case of iron pigmentation of occupational origin is described. The clinical appearance closely resembled that in cases of iron pigmentation due to therapeutic misadventures. The histology is described and an explanation of the punctate arrangement is offered. [ABSTRACT FROM AUTHOR]

The article discusses the metabolism disorder hypophosphatasia from a histochemical perspective. Symptoms of hypophosphatasia include the presence of phosphoethanolamine in urine, decreased activity by serum alkaline phosphatase and problems with tissues that have calcified, resulting in possible skeletal deformities, growth inhibition, premature deciduous tooth loss and rachitic rosary. The authors discuss the characterization of the disorder as an autosomal recessive disease based on the heterozygous nature of gene carriers. They suggest that variations in the disease may be due to several different organisms being classified together.

The article discusses a study on inborn metabolic errors, and focuses primarily on pseudohypoparathyroidism (PHP). In many cases, metabolic defects are first manifested orally. These enzymatic deficiencies are caused by rare inheritances of recessive genetic traits. PHP can be identified by hypoplastic defects in the teeth, and is more common in females.

The article presents research that examines the metabolic importance of the calcium to phosphorus ratio in foods and diets. The author states that this is an important area to study because if phosphates are proven to control dental decay it will be important to understand how they interact with the digestive system. The author notes that previous studies have shown that in certain conditions animals that consume large amounts of phosphates have problems absorbing nutrients.

Trichlormethiazide, 2 or 4 mg, or trichlormethiazide, 2 or 4 mg with reserpine, 0.1 mg, was administered once or twice daily to 40 patients with edema. Most patients who received the diuretic alone had congestive heart disease. The patients who received the compound had essential hypertension or hypertension in association with other edema-producing diseases. A few patients with edema of unknown etiology, primary hepatic or renal disease, postoperative edema, or premenstrual tension also were treated with these drugs. The diuretic response was excellent or good in 33 patients and those with hypertension usually also showed gradual reduction of blood pressure as a consequence of diuresis. There were no instances of hypotension or other significant clinical side effects and no evidence of electrolyte disturbance. The new drug compares favorably with others in its class. Apparently an excellent diuretic response can be achieved in most patients who receive 4 mg of trichlormethiazide twice daily. In combination with reserpine, the drug produces a gradual and sustained antihypertensive effect. [ABSTRACT FROM AUTHOR]