Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- Synonyms
- Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (29 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Abnormal facial shape
Abnormal facial shape
- MedGen UID: 98409
- Concept ID: C0424503
- Finding: Finding
Abnormality of head or neck
- Abnormality of the dentition
Abnormality of the dentition
- MedGen UID: 78084
- Concept ID: C0262444
- Finding: Finding
Abnormality of head or neck
- Abnormal facial shape
- Abnormality of metabolism/homeostasis
- Decreased tissue S-adenosylhomocysteine hydrolase activity
Decreased tissue S-adenosylhomocysteine hydrolase activity
- MedGen UID: 1053355
- Concept ID: CN377899
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating alanine aminotransferase concentration
Elevated circulating alanine aminotransferase concentration
- MedGen UID: 57740
- Concept ID: C0151905
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating aspartate aminotransferase concentration
Elevated circulating aspartate aminotransferase concentration
- MedGen UID: 57497
- Concept ID: C0151904
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypermethioninemia
Hypermethioninemia
- MedGen UID: 887708
- Concept ID: C4048705
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypoalbuminemia
Hypoalbuminemia
- MedGen UID: 68694
- Concept ID: C0239981
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating creatine kinase MM isoform
Increased circulating creatine kinase MM isoform
- MedGen UID: 1707383
- Concept ID: C5139213
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased tissue S-adenosylhomocysteine hydrolase activity
- Abnormality of the cardiovascular system
- Cardiomyopathy
Cardiomyopathy
- MedGen UID: 209232
- Concept ID: C0878544
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cardiomyopathy
- Abnormality of the digestive system
- Decreased hepatic echogenicity
Decreased hepatic echogenicity
- MedGen UID: 1379023
- Concept ID: C4477002
- Finding: Finding
Abnormality of the digestive system
- Decreased hepatic echogenicity
- Abnormality of the eye
- Esodeviation
Esodeviation
- MedGen UID: 1641033
- Concept ID: C4551734
- Finding: Disease or Syndrome
Abnormality of the eye
- Esodeviation
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter
- MedGen UID: 336019
- Concept ID: C1843700
- Finding: Finding
Abnormality of the musculoskeletal system
- Poor head control
Poor head control
- MedGen UID: 322809
- Concept ID: C1836038
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
- ACMG ACT, 2021American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated Methionine +/- Elevated Homocysteine, Homocystinuria (Cystathionine beta-synthase deficiency), 2021
- ACMG Algorithm, 2021American College of Medical Genetics and Genomics, Algorithm, Elevated Methionine +/- Elevated Homocysteine, 2021
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