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Summary
CONGENITAL ALVEOLAR PROTEINOSIS
PULMONARY ALVEOLAR PROTEINOSIS
265120
OMIM = Online Medalian Inheritance of Men
217563
2p11.2
  • ECMO
  • lung transplantation
  • ventilatory support
rare
autosomal recessive (congenital form)
mutation in the gene encoding surfactant protein B
2 forms of pulmonary alveolar proteinosis:
- congenital alveolar proteinosis (term newborns)
- adult form of alveolar proteinosis
symptoms
early death
failure to thrive
onset, neonatal
respiratory acidosis
respiratory distress
respiratory insufficiency
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
pH 7.357.45decreasedblood
pCO2 38.0042.00increasedblood
Literature
Yasukura Ket al.A mild case of nesidioblastosis with diagnostic and therapeutic difficultiesActa Paediatr Jpn350258-2611993
Matalon RMichaelis K, Kaul R, Whitman V, Rodriguez-Novo J, Goodman S, Thornburn DMalonic aciduria and cardiomyopathyJ Inherit Metab Dis160571-5731993
Zammarchi Eet al.Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemiaMetabolism450957-9601996
Ledbetter DHBallabio AMolecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalanceThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.10811-8391995
Walker Vet al.A novel pyrroline-5-carboxylic acid and acetoacetic acid adduct in hyperprolinaemia type IIClin Chim Acta33107-172003
Antozzi Cet al.Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiencyNeurology4402153-21581994
Escher JCet al.Molecular basis of lactase levels in adult humansJ Clin Invest890480-4831992
Bellet Het al.Type II hyperprolinaemia with renal involvementJ Inherit Metab Dis145846-8471991