Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia

PEDIATRICS ◽  
1984 ◽  
Vol 74 (4) ◽  
pp. 509-513
Author(s):  
Harvey L. Levy ◽  
J. Thomas Coulombe ◽  
Rachel Benjamin
Keyword(s):  
Mental Retardation ◽  
Physical Examination ◽  
Metabolic Disorders ◽  
Screening Program ◽  
Emotional Disturbances ◽  
Urine Specimen ◽  
Urine Screening ◽  
Family Screening ◽  
Dysmorphic Features ◽  
Iq Scores

Sarcosinemia has been detected by routine screening of urine for metabolic and transport disorders in Massachusetts. Three infants who had sarcosinemia were detected through the neonatal urine specimen, an observed incidence of 1:350,000. A fourth child had sarcosinemia detected through family screening after his brother was found to have Hartnup disease by neonatal urine screening. These four children with sarcosinemia have plasma sarcosine concentrations ranging from 80 to 603 µmol/L and urine sarcosine from 2.1 to 9.4 µmol/mg of creatinine, findings similar to those reported for persons with sarcosinemia. No treatment has been given. At 3.8 to 15 years of age, the children had normal findings on physical examination and had no specific illnesses. Their full-scale IQ scores ranged from 89 to 111. The oldest child had a learning and emotional disorder, and one other child was emotionally unstable. It was concluded that sarcosinemia as a specific disorder is probably benign and that the mental retardation and dysmorphic features described in some affected persons are likely coincidental with the biochemical defect. The emotional disturbances that were encountered in two children are also probably coincidental but need further attention in this disorder.

scholarly journals Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry

2021 ◽  
Vol 7 (1) ◽  
pp. 18
Author(s):  
Christiane Auray-Blais ◽  
Michel Boutin ◽  
Pamela Lavoie ◽  
Bruno Maranda
Keyword(s):  
Mass Spectrometry ◽  
Thin Layer ◽  
Thin Layer Chromatography ◽  
Clinical Symptoms ◽  
Screening Program ◽  
Compliance Rate ◽  
Inborn Errors ◽  
Organic Acidurias ◽  
Urine Screening ◽  
Layer Chromatography

The Quebec Neonatal Urine Screening Program was initiated in 1971 with overall screening inception of newborns in 1973. Forty-seven years later, over 3.5 million babies have been screened for up to 25 inborn errors of metabolism divided into two groups: (1) urea cycle disorders and organic acidurias; and (2) disorders of amino acid metabolism and transport. The main goal of this preventive genetic medicine program is the detection of treatable diseases before the onset of clinical symptoms. Urine specimens from 21-day-old babies are collected and dried on filter paper by parents at home. The participation is voluntary with a high compliance rate over the years (~90%). Specimens are analyzed by thin layer chromatography (TLC). The main objective of this evaluative research project was to assess the feasibility of a technological upgrade towards mass spectrometry. A 2.85-min flow injection method was devised, normal values established, and abnormal profiles confirmed using second-tier tests. The validated assays are sensitive, specific, and suitable for populational screening, as well as for high-risk screening laboratories. Triple H syndrome, which would not be detected in newborns by blood screening at two days of age was found to be positive in the urine of an affected patient.

ELECTROENCEPHALOGRAPHIC AND ETIOLOGIC FINDINGS IN MENTAL RETARDATION

PEDIATRICS ◽  
1963 ◽  
Vol 31 (3) ◽  
pp. 478-485
Author(s):  
Gerald D. LaVeck ◽  
Felix de la Cruz
Keyword(s):  
Mental Retardation ◽  
Metabolic Disorders ◽  
Mentally Retarded ◽  
Motor Dysfunction ◽  
Diagnostic Aid ◽  
Mentally Retarded Children ◽  
Mental Subnormality ◽  
Etiologic Diagnosis

A series of 578 institutionalized mentally retarded patients was evaluated by a multi-discipline approach in order to establish a presumptive etiologic diagnosis. Abnormal electroencephalographic findings were found to be related to the age of the patient, the severity of retardation, and the presence of seizures or motor dysfunction. In this series 65.9% had abnormal tracings, and the most frequent abnormality was a focal change in 18.7%. However, focal abnormalities correlated with seizures and motor dysfunction so that no specific electroencephalographic aberration was characteristic of mental subnormality. Abnormal tracings were most frequent in nonseizure patients when subnormality was caused by intoxication, new growths, metabolic disorders, infectious processes, trauma, and encephalopathy of unknown cause in decreasing order of frequency. Abnormalities were seen in 36.4% of "cultural-familial" defectives and those whose intellectual defect was presumably due to psychologic factors. It is believed that electroencephalography is a valuable diagnostic aid in the evaluation of mentally retarded children.

scholarly journals Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

1995 ◽  
Vol 32 (10) ◽  
pp. 792-795 ◽  
Author(s):  
J J M Engelen ◽  
C E M d. Die-Smulders ◽  
J M J Sijstermans ◽  
L E C Meers ◽  
J C M Albrechts ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Partial Trisomy ◽  
Mild Mental Retardation ◽  
Dysmorphic Features

Familial 13p+ chromosome with mental retardation and dysmorphic features in two children

1976 ◽  
Vol 34 (1) ◽  
Author(s):  
C. Stoll ◽  
A. Rohmer ◽  
R. Korn ◽  
G. Heumann
Keyword(s):  
Mental Retardation ◽  
Dysmorphic Features

Oligophrenia associated with various pathogenesis

2020 ◽  
Vol 56 (07) ◽  
pp. 73-76
Author(s):  
Afat Afar Israfilova ◽  
Keyword(s):  
Mental Retardation ◽  
Key Words ◽  
Metabolic Disorders ◽  
Genetic Disorders ◽  
Physical Illness ◽  
The Body ◽  
Negative Effect

The causes of pathology are different. There are various inherited genetic disorders of the body, which are metabolic disorders, chromosome deficiency leads to various pathologies. Other factors have a negative effect on embryonic pathogenesis in the intrauterine stage. As a result, the baby does not develop properly in the womb. Key words: Pathology, physical illness, infection, mental retardation

Phenylketonuria

2010 ◽  
Author(s):  
Virdette L. Brumm
Keyword(s):  
Amino Acids ◽  
Mental Retardation ◽  
Amino Acid ◽  
Newborn Screening ◽  
Phenylalanine Hydroxylase ◽  
Screening Program ◽  
Conference Report ◽  
Autosomal Recessive Disorder ◽  
Normal Diet ◽  
Normal Metabolism

Phenylketonuria (PKU) is the most frequent disorder of amino acid metabolism. First described by Fölling in 1934, PKU is an autosomal recessive disorder involving mutations in the phenylalanine hydroxylase (PAH) gene, which inhibits the normal metabolism of phenylalanine, an amino acid found in all proteins (Scriver et al. 2001). As a result, phenylalanine cannot be converted into tyrosine and accumulates in the blood and other tissues in untreated patients on a normal diet (Huijbregts et al. 2003; Pietz et al. 1998). The degree of impairment varies significantly among patients, resulting in a broad continuum of phenotypes (NIH Consensus Development Conference Report 2001). Phenylketonuria is the most common biochemical cause of mental retardation (Scriver et al. 1995). When untreated, increased phenylalanine concentrations in blood and tissues and low to normal tyrosine concentrations result in severe mental and neurological retardation (Scriver et al. 1995). In 1953, a treatment was discovered by Horst Bickel and his colleagues in England (Bickel et al. 1953). The treatment has become a standard of care and is based on a phenylalanine-restricted diet that consists of severe restriction of natural protein supplemented with all amino acids, except phenylalanine, to compensate for the shortage of amino acids through regular protein intake (Huijbregts et al. 2003). The work of Bickel and his colleagues proved that excessive phenylalanine resulted in neurological problems and that dietary treatment was beneficial. Patients with both classical and less severe forms of PKU require dietary protein restriction to prevent neurological sequelae and to ensure normal cognitive development. The first newborn screening program began in 1961 and initial results were reported by Guthrie and Susi (1963). The Guthrie bacterial assay for the filter paper blood test made it possible to identify PKU from a drop of blood from the heel of a newborn within the first days of life. It was then possible to begin treatment and thereby prevent mental retardation. Today, laws mandating newborn screening are in place in North American and Europe.

scholarly journals Routine Screening of Blood and Urine for Severe Anticonvulsant Reactions in Asymptomatic Patients is of Doubtful Value

1989 ◽  
Vol 16 (3) ◽  
pp. 361-363 ◽  
Author(s):  
Peter Camfield ◽  
Carol Camfield ◽  
Joseph Dooley ◽  
Kevin Farrell ◽  
Pierre Langevin ◽  
...  
Keyword(s):  
Screening Program ◽  
Child Neurology ◽  
Urine Screening ◽  
Basic Assumptions ◽  
Routine Blood ◽  
Canadian Association ◽  
Asymptomatic Patients ◽  
Anticonvulsant Medication ◽  
Toxic Reactions ◽  
Special Risk

ABSTRACT:On rare occasions anticonvulsant medication may cause severe or fatal toxic reactions. This position paper, approved by the Canadian Association for Child Neurology, examines the value of routine blood and urine screening to prevent catastrophic reactions in asymptomatic patients. The basic assumptions of such a screening program are faulty or unproven. Although not definitive, available studies of screening do not appear to support its value. It is recommended that routine blood and urine screening be discontinued in asymptomatic patients. Until such time as further research is able to identify patients at special risk, it is suggested that patients be carefully informed of the early symptoms of severe toxic reactions and report these immediately to a physician.

scholarly journals Inv dup (15) with mental retardation but few dysmorphic features.

1984 ◽  
Vol 21 (3) ◽  
pp. 221-223 ◽  
Author(s):  
D H Gilmore ◽  
E Boyd ◽  
J P McClure ◽  
P Batstone ◽  
J M Connor
Keyword(s):  
Mental Retardation ◽  
Dysmorphic Features

Metabolic Disorders Leading to Mental Deficiency

1963 ◽  
Vol 9 (5) ◽  
pp. 566-572 ◽  
Author(s):  
J L Karlsson
Keyword(s):  
Mental Retardation ◽  
Organic Carbon ◽  
Metabolic Disorders ◽  
Organic Materials ◽  
Mental Deficiency ◽  
New Approach ◽  
Carbon And Nitrogen ◽  
Metabolic Basis ◽  
Mental Defect

Abstract A new approach is described for the detection of abnormal metabolites in the urine of patients with known or suspected metabolic disorders. Distribution curves are presented for nonurea organic carbon and nitrogen which form a basis for judging whether grossly abnormal amounts of organic materials are present in the urine. Families with recurrent mental retardation have been identified whose mental defect may be on an unknown metabolic basis.

Sign in / Sign up

Export Citation Format

Share Document