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At least 19 recordsLinked to original sources
PubMed1975

Adenosine deaminase deficiency in combined immunologic deficiency disease.

Deficiency of red cell and lymphocyte adenosine deaminase (ADA) was found in children suffering from congenital combined immunologic deficiency. The parents had ADA levels intermediate between patients and controls. Complete lack of ADA activity was not found in normal subjects or in patients with a variety of other immunologic deficiency diseases.

Adenosine Deaminase↗
PubMed1981

The clinical spectrum of hexosaminidase deficiency diseases.

Hexosaminidase deficiency diseases or GM2-gangliosidoses were originally described as infantile encephalopathies. Recently, hexosaminidase deficiencies have been found with different phenotypes, including juvenile and adult encephalopathies, cerebellar ataxias, and motor neuron diseases. Individual cases have resembled Ramsey-Hunt syndrome, olivopontocerebellar ataxia, Friedreich ataxia, amyotrophic lateral sclerosis, Kugelberg-Welander disease, Fazio-Londe disease, and Charcot-Marie-Tooth disease. Tremor, dystonia, spastic paresis, and psychosis have been seen. Since few diagnosable causes for these system atrophies are known, these patients should be tested for hexosaminidase deficiency. These recessive disorders fit a multiple loci/multiple alleles genetic scheme, and a clinical genetic classification is presented.

Adult↗
PubMed1972

Immunoglobulin E in immunologic deficiency diseases. I. Relation of IgE and IgA to respiratory tract disease in isolated IgE deficiency, IgA deficiency, and ataxia telangiectasia.

Serum immunoglobulin E concentration was studied in normal children and adults, in 25 patients with isolated IgA deficiency, and in 44 patients with ataxia telangiectasia using a double antibody radioimmunoassay. The geometric mean IgE level of the normal adult population studied was 105 ng/ml, with a broad 95% interval (5-2045 ng/ml). Individuals with concentrations less than 15 ng/ml were considered to be IgE deficient. IgE deficiency, defined in this way, was observed in 7 of 73 normal adults and was not found to be associated with respiratory tract disease.80% (35 of 44) of patients with ataxia telangiectasia (AT) were IgE deficient, 66% were IgA deficient, and 57% had combined IgE and IgA deficiencies. Although 45% of the patients with AT had respiratory tract disease, there was no correlation found between IgE deficiency or combined IgE and IgA deficiency and respiratory tract disease in these patients.11 of 25 individuals with isolated IgA deficiency were also IgE deficient. All 11 patients with both IgA and IgE deficiency were uniformly asymptomatic. However, there was an extremely high incidence (71%) of respiratory tract disease in IgA-deficient individuals who were not IgE deficient. These data fail to support the concept of a protective role for IgE in respiratory tract immunity. The possible role of IgE in the pathogenesis of respiratory tract disease in IgA-deficient patients is discussed.

Adolescent↗
PubMed1975

[X-Ray and clinical study of the nose, sinuses and maxilla in patients with severe iron deficiency disease (author's transl)].

A definite relation between ozaena and iron deficiency disease could not be verified. However, the examination of 88 patients with severe iron deficiency disease, mostly of juvenile age, revealed that X-ray pictures of the nose and the paranasal sinuses showed abnormal alterations indicating the existence of a non-inflammatory process. There were few symptoms from the nose and the neighbouring structures as well as insignificant clinical findings by inspection of these structures. The increased opacity of the maxillary sinuses on the roentgenograms and some other changes are considered to be partially due to the insufficient pneumatisation which is related to the retarded development and maturation of juvenile patients with iron deficiency disease. Furthermore, it is caused by the enlargement and thickening of the facial bones resulting from the expansive growth of the hyperplastic and hypertrophic red marrow filling completely the cancelous substance. The space of the maxillary sinuses is narrowed in many cases, the penetration power of the X-ray diminished and the clearing effect of the air containing cavities decreased.

Adolescent↗
PubMed1998

Identification of a familial mutation associated with GABA-transaminase deficiency disease.

GABA-transaminase (GABA-T) deficiency disease is a rare recessive disorder characterized by abnormal development, seizures, and high levels of GABA in serum and cerebrospinal fluid. Although some patients are the offspring of consanguineous marriages, most are not. To identify the molecular basis of this disease, we have determined the sequence of human GABA-T cDNA. We have compared the GABA-T cDNA sequences in cultured cells derived from six healthy controls with those from a GABA-T-deficient patient and both parents. Our data indicate that GABA-T deficiency disease may result from an allele that encodes an R220K substitution.

4-Aminobutyrate Transaminase↗
PubMed1978

Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.

A new form of hexosaminidase deficiency disease is characterized clinically by mild, juvenile-onset, very slowly progressive cerebellar ataxia with macular cherry-red spots and absence of other findings. Biochemically there is striking hexosaminidase deficiency in serum, leukocytes, and fibroblasts. Hexosaminidase B appears absent, but hexosaminidase A-like and S-like activity is present on starch-gel electrophoresis. We studied hexosaminidase in leukocytes and serum from members of an affected patient's family and traced the enzyme defect through four generations. Leukocyte heat-stabile hexosaminidase in obligate and presumptive carriers was depressed both in specific activity (nanomoles per milligram of protein per hour) and as a percentage of total hexosaminidase. The carrier state was expressed in serum, but overlap with controls made this test unreliable. The similarity of these carriers to carriers of Sandhoff disease suggests that the disorders may be closely related, perhaps as allelic mutations of the hexosaminidase beta subunit. Those involve with screening for Tay-Sachs disease should be aware that persons with an increased percentage of hexosaminidase A--that is, a decreased heat-stabile fraction--may be carriers of hexosaminidase deficiency diseases.

Chemical Phenomena↗