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Summary
CONGENITAL SECRETORY DIARRHOEA
CONGENITAL SODIUM DIARRHEA
270420
OMIM = Online Medalian Inheritance of Men
103908
19q13.2
  • high fluid intake
  • oral hydration solutions
very rare
autosomal recessive
mutation in the SPINT2 gene
symptoms
abdominal distension
diarrhea
low set ears
macrocephaly (large calvaria, >2 SD for age)
metabolic acidosis
onset, neonatal
polyhydramnion (maternal)
renal failure, acute/chronic
laboratory finding
Bicarbonate increasedstool
Sodium increasedstool
Sodium decreasedserum
Sodium0.000.00 low/normalurineno data
Literature
Saudubray JMet al.Hyperketotic states due to inherited defects of ketolysisEnzyme38080-901987
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Applegarth DAToone JRGlycine encephalopathy (nonketotic hyperglycinaemia) : review and updateJ Inherit Metab Dis2732417-4222004
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Chong Bet al.Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotypeJ Bone Miner Res18122095-21042003
Schaefer GBet al.The neuroimaging findings in Sotos syndromeAm J Med Genet680462-4651997
Middleton Bet al.Infantile ketoacidosis associated with decreased activity of succinyl-CoA:3-ketoacid CoA-transferaseJ Inher Met Dis (Suppl2)1002731987
Nwokoro NAMulvihill JJCholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndromeAm J Med Genet310315-3211997