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Summary
S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
HYPERMETHIONINEMIA, FAMILIAL
613752
OMIM = Online Medalian Inheritance of Men
88618
20q11.22
  • creatine monohydrate
  • diet
  • phosphatidylcholine
very rare
autosomal recessive
mutation in the AHCY gene
symptoms
behavior, abnormal or bizarre, confusion
behavior, autism or autistic-like
cardiac involvement, cardiac defects
cardiomyopathy
cerebral atrophy
cholestasis
developmental delay
dysmorphism
failure to thrive
feeding difficulties, poor feeding
growth retardation
hair, abnormal (thin, brittle, fine)
hepatomegaly (large liver)
hydrops fetalis
hypotonia
jaundice
liver involvement or dysfunction
mental retardation
motor retardation
muscle weakness
myopathy
onset, adulthood
onset, childhood
onset, infancy
onset, neonatal
psychomotor retardation
seizures
strabismus
laboratory finding
L-Methionine37.001000.0011.0030.00-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 -
D-Glucose
Creatine kinase increasedplasma
Homocysteine slightly elevatedplasma
Albumin decreasedplasma
MRI, brain, white matter abnormalities -
S-Adenosylmethionine increasedplasma
S-Adenosylhomocysteine increasedplasma
L-Methionine increasedcerebrospinal fluid
Guanidinoacetate increasedplasma
L-Methionine0.000.00 increasedurineno data
S-Adenosylhomocysteine0.000.00 increasedurineno data
Literature
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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
Sabir N,Jones EA, Padmakumar BTrimethylaminuriaBMJ Case Rep002016
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
Tetreault M,et al.Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndromeHum Genet1349981-9912015
Rigante Det al.Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndromeRheumatol Int27197-1002006