Visit Metagene.de!
Summary
S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (SAHH)
HYPERMETHIONINEMIA, FAMILIAL
613752
OMIM = Online Medalian Inheritance of Men
88618
20q11.22
  • creatine monohydrate
  • diet
  • phosphatidylcholine
very rare (9 cases)
autosomal recessive
mutation in the AHCY gene
symptoms
behavior, abnormal or bizarre, confusion
behavior. aggressive
cardiac involvement, cardiac defects
cardiomyopathy
cerebral atrophy
cholestasis
developmental delay
dysmorphism
failure to thrive
feeding difficulties, poor feeding
growth retardation, poor growth
hair, abnormal (thin, brittle, fine)
hepatomegaly (large liver)
hydrops fetalis
hypoglycemia
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
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 mmol/lserum
Creatine kinase increasedplasma
Homocysteine -Ámol/lplasma
Albumin decreasedplasma
MRI, brain, white matter abnormalities -
S-Adenosylmethionine increasedplasma
S-Adenosylhomocysteine -Ámol/lplasma
Methionine increasedcerebrospinal fluid
Methionine25.00250.00 mmol/mol creatinineurine
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
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
Graziano C,et al.Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variantGene5592144-1482015
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
Setchell KD,et al.Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapyGastroenterology1241217-2322003