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Summary
D-BIFUNCTIONAL PROTEIN DEFICIENCY
261515
OMIM = Online Medalian Inheritance of Men
300
5q23.1
rare
autosomal recessive
symptoms
ascites
ataxia
cerebellar atrophy or hypoplasia
cholestasis
diarrhea
dysmorphism
early death
failure to thrive
feeding difficulties, poor feeding
hearing defect, deafness
heart involvement
hepatomegaly (large liver)
hyperreflexia
hypotonia
liver involvement (acute, chronic, hepatitis)
macrocephaly (large calvaria, >2 SD for age)
mental retardation
motor retardation
nystagmus
onset, child
onset, infant
onset, newborn
peripheral neuropathy
polyhydramnion (maternal)
renal cysts
seizures
strabismus
laboratory finding
C26:0 increasedplasma
Pipecolic acid0.000.00 increasedurineno data
Pipecolic acid increasedplasma
Trihydroxycoprostanic acid normal/increasedplasma
Dicarboxylic acids increasedurine
Literature
Gerrits MIThijssen JH, van Rijn HJDetermination of pyrodinoline and deoxypyrodinoline in urine, with special attention to retaining their stabilityClin Chem414571-5741995
Bull PCCox DWWilson disease and Menkes disease: new handles on heavy-metal transportTrends Genet107246-2521994
Santos Silva EEet al.Successful treatment of severely decompensated Wilson diseaseJ Pediatr1280285-2871996
Millington DSet al.Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometryBiomed Environ Mass Spectrom1412711-7161987
Royes LFet al.Effectiveness of creatine monohydrate on seizures and oxidative damage induced by methylmalonatePharmacol Biochem Behav831136-1442006
al-Qattan MMThomson HGMenkes syndrome: wound healing in a long-term survivor Ann Plast Surg325550-5521994
Deodato Fet al.Methylmalonic and propionic aciduriaAm J Med Genet C Semin Med Genet002006
Petrukhin Ket al.Characterisation of the Wilson disease gene encoding a P-type copper transorting ATPase: genomic organisation, alternative splicing, and structure/function predictions Hum Mol Genet391647-16561994