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Summary
ADENOSINE DEAMINASE (ADA)
ADENOSINE DEAMINASE IMMUNODEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY
102700
OMIM = Online Medalian Inheritance of Men
277
20q13.11
  • bone marrow transplantation
  • enzyme replacement therapy
  • gene therapy
autosomal recessive
symptoms
bronchiectasia
diarrhea
failure to thrive
infections (severe or recurrent)
onset, childhood
onset, infancy
onset, neonatal
pulmonary alveolar proteinosis
vomiting
laboratory finding
Lymphocytes decreasedblood
Adenosine0.000.00 increasedurineno data
L-Glutamine increasedcerebrospinal fluid
Homocystine0.000.00 increasedurineno data
L-Methionine increasedcerebrospinal fluid
2-Deoxyadenosine0.000.00 increasedurineno data
Literature
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Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Coenen MJvan den Heuvel LP, Smeitink JAMitochondrial oxidative phosphorylation system assembly in man: recent achievementsCurr Opin Neurol140777-7872001
Williams TAet al.A particular phenotype in a girl with aldosterone synthase deficiencyJ Clin Endocrinol Metab8903168-31722004
Dunlop FMet al.A compound heterozygote case of type II aldosterone synthase deficiencyJ Clin Endocrinol Metab8862518-25262003
Bodemer Cet al.Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 casesBr J Dermatol131093-981994
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Williams TAet al.A particular phenotype in a girl with aldosterone synthase deficiencyJ Clin Endocrinol Metab8903168-31722004
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Fattal-Valevski Aet al.Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formulaPediatrics1152e233-2382005
Zaidi ANet al.Myocardial Calcification Caused by Secondary Hyperparathyroidism Due to Dietary Deficiency of Calcium and Vitamin DPediatr Cardiol002005
Budden SSMyer EC, Butler IJCerebrospinal fluid studies in the Rett syndrome: biogenic amines and beta-endorphinsBrain Dev12181-841990
Matsuishi Tet al.The Rett syndrome and CSF lactic acid patternsBrain Dev14068-701992
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991