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Summary
S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
HYPERMETHIONINEMIA, FAMILIAL
601752
OMIM = Online Medalian Inheritance of Men
88618
20q11.22
  • creatine monohydrate
  • diet
  • phosphatidylcholine
very rare
autosomal recessive
symptoms
behavior, abnormal or bizarre, confusion
behavior, autism or autistic-like
cardiac involvement
cardiomyopathy
cerebral atrophy
cholestasis
dysmorphism
failure to thrive
feeding difficulties
growth retardation
hair, abnormal (thin, brittle)
hepatomegaly (large liver)
hydrops fetalis
hypotonia
jaundice
liver involvement (acute, chronic, hepatitis)
mental retardation
motor retardation
muscle weakness
myopathy
onset, newborn
psychomotor retardation
seizures
strabismus
laboratory finding
Methionine37.001000.0010.0030.00-Ámol/lplasma
Transaminases17.00430.0010.0030.00U/lserum
S-Adenosylhomocysteine hydrolase0.901.505.408.40nmol/min/mg proteinliver
S-Adenosylhomocysteine hydrolase10.00100.00 100.00% of normal activityerythrocytes
CT, brain, abnormalities -
Glucose
Creatine kinase increasedplasma
Homocysteine slightly elevatedplasma
Albumin decreasedplasma
MRI, brain, white matter abnormalities -
S-Adenosylmethionine increasedplasma
S-Adenosylhomocysteine increasedplasma
Methionine increasedspinal fluid
Guanidinoacetate increasedplasma
Methionine0.000.00 increasedurineno data
S-Adenosylhomocysteine0.000.00 increasedurineno data
Literature
Cox GFet al.Reversal of severe hypertrophic cardiomayopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiencyJ Pediatr1330247-2531998
Fukuzawa Ret al.Beckwith-Wiedemann syndrome-associated hepatoblastoma: wnt signal activation occurs later in tumorigenesis in patients with 11p15.5 uniparental disomyPediatr Dev Pathol64299-3062003
Soonawalla ZFet al.Liver transplantation as a cure for acute intermittent porphyriaLancet3630705-7062004
Vila Set al.Importance of serum interleukin-6 as a mediator of systemic inflammation in patients with alpha-1 antitrypsin deficiencyArch Bronconeumol386263-2662002
Parfrey Het al.Alpha(1)-antitrypsin deficiency, liver disease and emphysemaInt J Biochem Cell Biol3571009-10142003
Hoffmann GFDie Mevalonazidurie - eine Stoffwechselerkrankung der Cholesterin- und IsoprenoidbiosyntheseThieme Verlag Stuttgart New York001994
Rigante Det al.Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndromeRheumatol Int27197-1002006