acid-phosphatase and Intellectual-Disability

Topics: Acid Phosphatase; Adult; Bone Diseases; Cerebrosides; Epilepsy, Temporal Lobe; Gaucher Disease; Graft Rejection; Graft vs Host Reaction; Humans; Intellectual Disability; Kyphosis; Lymphopenia; Male; Postoperative Complications; Radionuclide Imaging; Spleen; Technetium; Thrombocytopenia; Transplantation, Homologous

Only a few genetic causes for childhood obesity have been identified to date. Copy number variants (CNVs) are known to contribute to obesity, both syndromic (15q11.2 deletions, Prader-Willi syndrome) and nonsyndromic (16p11.2 deletions) obesity.. To study the contribution of CNVs to early-onset obesity and evaluate the expression of candidate genes in subcutaneous adipose tissue.. A case-control study in a tertiary academic center.. CNV analysis was performed on 90 subjects with early-onset obesity and 67 normal-weight controls. Subcutaneous adipose tissue from body mass index-discordant siblings was used for the gene expression analyses.. We used custom high-density array comparative genomic hybridization with exon resolution in 1989 genes, including all known obesity loci. The expression of candidate genes was assessed using microarray analysis of messenger RNA from subcutaneous adipose tissue.. We identified rare CNVs in 17 subjects (19%) with obesity and 2 controls (3%). In three cases (3%), the identified variant involved a known syndromic lesion (22q11.21 duplication, 1q21.1 deletion, and 16p11.2 deletion, respectively), although the others were not known. Seven CNVs in 10 families were inherited and segregated with obesity. Expression analysis of 37 candidate genes showed discordant expression for 10 genes (PCM1, EFEMP1, MAMLD1, ACP6, BAZ2B, SORBS1, KLF15, MACROD2, ATR, and MBD5).. Rare CNVs contribute possibly pathogenic alleles to a substantial fraction of children with early-onset obesity. The involved genes might provide insights into pathogenic mechanisms and involved cellular pathways. These findings highlight the importance of CNV screening in children with early-onset obesity.

Topics: Abnormalities, Multiple; Acid Phosphatase; Adolescent; Adult; Ataxia Telangiectasia Mutated Proteins; Autistic Disorder; Autoantigens; Case-Control Studies; Cell Cycle Proteins; Child; Child, Preschool; Chromosome Deletion; Chromosome Disorders; Chromosome Duplication; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 16; Chromosomes, Human, Pair 22; Comparative Genomic Hybridization; DiGeorge Syndrome; DNA Copy Number Variations; DNA Repair Enzymes; DNA-Binding Proteins; Extracellular Matrix Proteins; Female; Humans; Hydrolases; Intellectual Disability; Kruppel-Like Transcription Factors; Male; Megalencephaly; Microfilament Proteins; Nuclear Proteins; Pediatric Obesity; Proteins; RNA, Messenger; Siblings; Subcutaneous Fat; Transcription Factors; Transcription Factors, General; Transcriptome; Young Adult

We report a patient with a de novo interstitial deletion of the short arm of chromosome 2 (p23p25). The patient had microcephaly with prominent forehead and occiput, narrow rectangular face, clinodactyly, failure to thrive, delayed psychomotor development, and seizures. Maternal serum alpha-fetoprotein was undetectable at 18 weeks of gestation. Heterozygosity at the red cell acid phosphatase locus (SRO-2p25) and normal levels of red cell malate dehydrogenase (SRO-2p23) are findings consistent with the presence of genetic material from bands 2p25 and 2p23.

Topics: Abnormalities, Multiple; Acid Phosphatase; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 2; Erythrocytes; Genetic Markers; Humans; Infant, Newborn; Intellectual Disability; Malate Dehydrogenase; Male; Microcephaly

The locus for acid phosphatase (ACP1) had been alternately assigned to two conflicting regions on the short arm of chromosome 2. We present a clinical and cytogenetic report of one patient who has an interstitial deletion of 2, del(2) (p23p25.1), and a cytogenetic study of another cell line with an interstitial deletion of 2p (p23.1p25.1). Because both patients are heterozygotes for ACP1, the assignment of ACP1 to 2p25.1----pter is supported.

Topics: Abnormalities, Multiple; Acid Phosphatase; Child; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosome Mapping; Chromosomes, Human, Pair 2; Genetic Markers; Humans; Infant, Newborn; Intellectual Disability; Microcephaly; Seizures

To evaluate the effects of calcitriol (1,25-dihydroxyvitamin D3) therapy for the bone disease induced by long-term treatment with anticonvulsants, we reviewed the medical records of 330 institutionalized oligophrenic children and young adults under 26 years of age to identify the 144 children who required anticonvulsant therapy. Of this latter group, 52 children were found to have serum alkaline phosphatase levels elevated more than 2 SDs above normal and were enrolled into this prospective three-year study. To achieve rapid resolution of the bone disease, we elected to use calcitriol at 0.25 to 0.75 micrograms/d. After 1195 patient-months of treatment, our data suggest that the dystrophic process was reversed in 42.3% of the cases, as judged by decreases in serum alkaline phosphatase levels at six months, 65.4% of cases at 12 months, and 83.3% of cases at 13 to 18 months. By 30 months of follow-up, all patients showed significant lowering of serum alkaline phosphatase levels. The improvements were slow and gradual. Twenty-six patients in the treatment series of 52 patients initially showed signs of rickets or osteomalacia on roentgenograms of the wrists. Of these 26 patients, 12 (46%) showed improvement on roentgenograms within 24 months of the beginning of treatment. With reference to complications, hypercalcemia (calcium level, greater than 11 mg/dL [2.74 mmol/L]) was encountered at the rate of one episode per 44 patient-months of treatment. Our results strongly suggest that calcitriol is effective in healing anticonvulsant-related osteomalacia among children and youths, with a low incidence of complications.

Topics: Acid Phosphatase; Adult; Anticonvulsants; Aspartate Aminotransferases; Calcitriol; Calcium; Child; Child, Preschool; Female; Humans; Hypercalcemia; Intellectual Disability; Male; Osteomalacia; Phosphates; Prospective Studies; Radiography; Rickets

5 serum protein polymorphic systems (haptoglobin, alkaline phosphatase, group-specific (Gc) proteins, beta2-glycoprotein 1 and leucine aminopeptidase) and 6 red-cell polymorphisms (adenosine deaminase, adenylate kinase, phosphoglucomutase, glutamic-pyruvic transaminase, phosphogluconate dehydrogenase and acid phosphatase) have been investigated in 54 subjects with tuberous sclerosis. The frequencies of all systems were compared with those of a control sample drawn from a similar mentally retarded population and abnormal distributions were detected in the haptoglobin and Gc system. Quantitative estimation of the serum levels of the Gc protein failed to detect any inter-group differences. Data on the deviations from the Hardy-Weinberg equlibrium, Haldane's Log ratio test between groups, and gene frequencies of both test and control groups are given. It is suggested that selection by mortality is the possible causation for the abnormal distribution of the Gc phenotypes, but the haptoglobin phenotype distribution requires further investigation with care being taken in the selection of control subjects.

Topics: Acid Phosphatase; Adenosine; Adult; Alanine Transaminase; Alkaline Phosphatase; Aminohydrolases; Blood Proteins; Erythrocytes; Female; Gene Frequency; Glycoproteins; Haptoglobins; Humans; Intellectual Disability; Leucyl Aminopeptidase; Male; Phenotype; Phosphoglucomutase; Phosphogluconate Dehydrogenase; Phosphotransferases; Polymorphism, Genetic; Tuberous Sclerosis

Topics: Abnormalities, Multiple; Acid Phosphatase; Arabinose; Corneal Opacity; Cytoplasmic Granules; Fibroblasts; Galactosidases; Glucosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Intellectual Disability; Mannose; Metabolism, Inborn Errors; Mucopolysaccharidoses; Phosphoric Diester Hydrolases; Retinitis Pigmentosa; Skin

Topics: Acid Phosphatase; Adult; Alanine; Brain Chemistry; Cerebrosides; Child, Preschool; Chromatography, Paper; Chromatography, Thin Layer; Creatinine; Female; Gangliosides; Glucuronidase; Glycine; Glycogen; Humans; Intellectual Disability; Kidney; Lipids; Liver; Male; Pedigree

Topics: Acetates; Acid Phosphatase; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Fucose; Galactosidases; Glucuronidase; Glycolipids; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Hydrolases; Infant; Intellectual Disability; Leukocytes; Lipid Metabolism, Inborn Errors; Liver; Lysosomes; Male; Middle Aged; Mucopolysaccharidoses; Sulfatases

Topics: ABO Blood-Group System; Acid Phosphatase; Adult; Age Factors; Alanine Transaminase; Blood Group Antigens; Blood Proteins; Complement System Proteins; Down Syndrome; Electrophoresis, Starch Gel; Erythrocytes; Hemagglutination Tests; Hepatitis B Antigens; Humans; Immunoelectrophoresis; Immunoglobulin Fragments; Immunoglobulin G; Intellectual Disability; Lipoproteins; Phenotype; Phosphoglucomutase; Rh-Hr Blood-Group System; Serum Globulins; Sex Factors

Topics: ABO Blood-Group System; Acid Phosphatase; Adolescent; Adult; Age Factors; Aminohydrolases; Child; Child, Preschool; Culture Media; Down Syndrome; Electrophoresis, Starch Gel; Erythrocytes; Female; Glucosephosphates; Humans; Immunoelectrophoresis; Intellectual Disability; Isocitrate Dehydrogenase; Male; Methods; Middle Aged; Phenotype; Phosphoglucomutase; Phosphogluconate Dehydrogenase; Phosphotransferases; Polymorphism, Genetic; Sex Factors

Topics: Abnormalities, Multiple; Acid Phosphatase; Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Child; Child, Preschool; Chromatography, Gel; Corneal Opacity; Face; Galactosidases; Glucuronidase; Hexosaminidases; Humans; Inclusion Bodies; Intellectual Disability; Leukocyte Count; Liver; Lymphocytes; Male; Mannose; Microscopy, Electron

Topics: Acid Phosphatase; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Glycosaminoglycans; Histocytochemistry; Humans; Inclusion Bodies; Infant; Intellectual Disability; Lymphocytes; Male; Microscopy, Electron; Mucopolysaccharidoses; Retinitis Pigmentosa; Staining and Labeling

Topics: Acid Phosphatase; Biopsy; Child; Glucosidases; Glucosyltransferases; Glucuronidase; Glycogen; Glycogen Storage Disease; Hexosaminidases; Histocytochemistry; Humans; Intellectual Disability; Male; Microscopy; Microscopy, Electron; Muscles; Muscular Atrophy; Muscular Diseases

Topics: Acid Phosphatase; Adolescent; Adult; Age Factors; Blood Group Antigens; Down Syndrome; Electrophoresis, Starch Gel; Erythrocytes; Female; Gene Frequency; Haptoglobins; Heterozygote; Homozygote; Humans; Intellectual Disability; Male; Middle Aged; Phenotype; Schizophrenia; Sex Factors; Smoking

Topics: Acid Phosphatase; Biopsy; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Cytoplasm; Female; Fibroblasts; Glycosaminoglycans; Histocytochemistry; Humans; Infant; Intellectual Disability; Lysosomes; Macrophages; Male; Microscopy, Electron; Mucopolysaccharidoses; Retinitis Pigmentosa; Schwann Cells; Skin; Syndrome

Topics: Acid Phosphatase; Adenine Nucleotides; Adenosine; Alanine Transaminase; Aminohydrolases; Blood Protein Electrophoresis; Blood Proteins; Electrophoresis, Starch Gel; Female; Haptoglobins; Humans; Immunodiffusion; Intellectual Disability; Isoenzymes; L-Lactate Dehydrogenase; Liver Function Tests; Male; Phenotype; Phenytoin; Phosphoglucomutase; Phosphogluconate Dehydrogenase; Phosphotransferases; Primidone

Ceramidase activity could not be demonstrated in the kidney and cerebellum from a deceased patient with Farber's disease, whereas the activities of six control acid hydrolase enzymes appeared normal. This enzyme defect presumably accounts for the accumulation that has been described in two patients and may represent the biochemical basis of this disorder.

Topics: Acid Phosphatase; Adult; Carbon Isotopes; Ceramides; Cerebellum; Cerebrosides; Child; Child, Preschool; Congenital Abnormalities; Female; Galactose; Galactosidases; Glucose; Glycoside Hydrolases; Heart Defects, Congenital; Hexosaminidases; Humans; Hydrolases; Infant; Infant, Newborn; Intellectual Disability; Kidney; Lipidoses; Liver Cirrhosis, Biliary; Male; Metabolism, Inborn Errors; Neuraminidase; Pigmentation Disorders; Respiratory Distress Syndrome, Newborn

Topics: Acid Phosphatase; Carbohydrate Metabolism, Inborn Errors; Child; Galactosidases; Glucuronidase; Glycosaminoglycans; Hexosaminidases; Humans; Hydrolases; Intellectual Disability; Leukocytes; Sulfatases

Topics: Acid Phosphatase; Adenosine Monophosphate; Adolescent; Blood Group Antigens; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 6-12 and X; Dermatoglyphics; Genetic Linkage; Humans; Intellectual Disability; Karyotyping; Male; Phosphotransferases

Topics: Acid Phosphatase; Analysis of Variance; Aneuploidy; Autoradiography; Blood Group Antigens; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 16-18; Chromosomes, Human, 21-22 and Y; Female; Fibroblasts; Haptoglobins; Heterozygote; Humans; Intellectual Disability; Karyotyping; Lymphocytes; Microscopy, Fluorescence; Osteochondrodysplasias; Pedigree; Phosphoglucomutase; Thymidine; Tritium

Topics: Acid Phosphatase; Adolescent; Adult; Alkaline Phosphatase; Biopsy; Child; Child, Preschool; Dwarfism; Female; Femur; Galactosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Humans; Hyaluronic Acid; Intellectual Disability; Lysosomes; Male; Mannose; Radiography; Skeleton; Skin; Spectrophotometry

Topics: Acid Phosphatase; Adolescent; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Fucose; Galactosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Hyaluronoglucosaminidase; Intellectual Disability; Liver; Mannose; Mucopolysaccharidosis I; Sulfatases

Topics: Acid Phosphatase; Brain; Carbohydrate Metabolism, Inborn Errors; Chromatography, Gel; Fucose; Galactosidases; Glucosamine; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hot Temperature; Humans; Intellectual Disability; Kidney; Mannose; Molecular Weight; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Spleen

Topics: Acid Phosphatase; Adult; Alkaline Phosphatase; Aspartate Aminotransferases; Child; Down Syndrome; Erythrocytes; Female; Fructose-Bisphosphate Aldolase; Glucosephosphate Dehydrogenase; Humans; Intellectual Disability; L-Lactate Dehydrogenase; Leukocytes; Male

Topics: Acid Phosphatase; Adolescent; Adult; Alanine; Alkaline Phosphatase; Amino Acids; Aspartate Aminotransferases; Aspartic Acid; Chromatography, Thin Layer; Enzymes; Erythrocytes; Female; Glucosephosphate Dehydrogenase; Glutamates; Glycine; Humans; Intellectual Disability; L-Lactate Dehydrogenase; Leukocytes; Male; Middle Aged; Pedigree; Phenylalanine; Spectrophotometry; Tyrosine

Topics: Acid Phosphatase; Adolescent; Adult; Aged; Alkaline Phosphatase; Aspartate Aminotransferases; Child; Child, Preschool; Down Syndrome; Female; Fructose-Bisphosphate Aldolase; Glucosephosphate Dehydrogenase; Humans; Infant; Intellectual Disability; Male; Middle Aged; Spectrophotometry

Topics: Acid Phosphatase; Biopsy; Cerebral Cortex; Chromatography; Diagnosis, Differential; Electrons; Histocytochemistry; Humans; Infant; Intellectual Disability; L-Lactate Dehydrogenase; Lipidoses; Lipids; Malate Dehydrogenase; Microscopy; Microscopy, Electron; NAD; NADP; Neuroglia; Pathology; Tay-Sachs Disease

Topics: Acid Phosphatase; Adenosine Triphosphatases; Humans; Intellectual Disability; Lipidoses; Neuroglia; Oxidoreductases; Tay-Sachs Disease