Visit Metagene.de!
Summary
ALPHA-1-ANTITRYPSIN DEFICIENCY (AATD)
ANTITRYPSIN ALPHA(1)-ANTITRYPSIN DEFICIENCY PROTEASE INHIBITOR 1
613490
OMIM = Online Medalian Inheritance of Men
60
14q32.13
  • antibiotics
  • enzyme replacement therapy
  • liver transplantation
  • no smoking
rare (1-5/10000)
autosomal recessive
mutation in the SERPINA1 gene
> 70 genetic variants (PI types) therapy: risks of smoking ! aggresive treatment of pulmonary infections enzyme replacement (pooled human blood or recombinant AAT) liver transplantation
symptoms
cholestasis
cirrhosis or fibrosis of liver
dyspnea
emphysema
failure to thrive
gastrointestinal hemorrhage (bleeding)
jaundice
liver carcinoma
liver failure
liver involvement (acute, chronic, hepatitis)
no clinical signs or symptoms
onset, adolescent
onset, adulthood
onset, neonatal
pancreatitis
pneumonia
portal hypertension
laboratory finding
alpha-1-Antitrypsin 150.00350.00decreasedserum
Transaminases0.000.00 increasedplasma
Literature
Nyhan WLThe recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolismJ Inherit Metab Dis202171-1781997
Fujieda Ket al.Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenitaJ Steroid Biochem Mol Biol850483-4892003
Klepper Jet al.Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?Pediatr Neurol294321-3252003
Scott CRSarcosinemiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101329-13351995
Barth PGet al.X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an updateAm J Med Genet A1264349-3542004
Knip MAkerblom HKPlasma C-peptide and insuline in neonates, infants and childrenJ Pediatr990103-1051981
Tippet PDanks DMThe clinical and biochemical findings in three cases of hypersarcosinemia and one case of transient hypersarcosinuria associated with folic acid deficiencyHelv Paediatr Acta2902611974
Montagna P, et al.MELAS syndrome: characteristic migrainous and epileptic features and maternal transmissionNeurology380751-7541988
de Koning TJKlomp LWSerine-deficiency syndromesCurr Opin Neurol172197-2042004
Boveda MDet al.The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatmentJ Inherit Metab Dis. 2007 Oct30(5):812. Epub 2007 Jun 213058122007
Knip MAkerblom HKPlasma C-peptide and insuline in neonates, infants and childrenJ Pediatr990103-1051981
Kuijpers TWet al.Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosisBlood103103915-39232004
Skladal Det al.The clinical spectrum of mitochondrial disease in 75 pediatric patientsClin Pediatr (Phila)428703-7102003
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Kanaka CSchutz B, Zuppinger KARisks of alternative nutrition in infancy: a case report of severe iodine and carnitine deficiencyEur J Pediatr1510786-7881992
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Ciafaloni Eet al.MELAS: clinical features, biochemistry and molecular geneticsAnn Neurol310391-3981992
Gonzalez AAet al.Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory proteinJ Clin Endocrinol Metab892946-9512004
Bentlage HAet al.Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscleNeurology471243-2481996
Pavlakis SGet al.Mitochondrial myopathy, encephalopmyopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndromeAnn Neurol160481-4881984
Saudubray JMSpecola N, Middleton B, Lombes A, Bonnefont JP, Jacobs C, Vassault A, Charpentier CHyperketotic states due to inherited defects of ketolysis4th International congress of inborn errors of metabolism001986
Khoury KDucharme L, LeHoux JGFamily of two patients with congenital lipoid adrenal hyperplasia due to StAR mutationEndocr Res304925-9292004