Methylmalonic aciduria and homocystinuria type cblD
- Synonyms
- METHYLMALONIC ACIDEMIA, cblH TYPE; Methylmalonic acidemia with homocystinuria cblD; Methylmalonic aciduria with homocystinuria cblD type; cblD (variant 1); cblD (variant 2)
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Jennifer L Sloan
- Nuria Carrillo
- David Adams
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (74 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Increased mean corpuscular volume
Increased mean corpuscular volume
- MedGen UID: 81303
- Concept ID: C0302845
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Megaloblastic anemia
Megaloblastic anemia
- MedGen UID: 1527
- Concept ID: C0002888
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Increased mean corpuscular volume
- Abnormality of metabolism/homeostasis
- Decreased circulating adenosylcobalamin concentration
Decreased circulating adenosylcobalamin concentration
- MedGen UID: 336369
- Concept ID: C1848556
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased circulating methylcobalamin concentration
Decreased circulating methylcobalamin concentration
- MedGen UID: 867371
- Concept ID: C4021736
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased methionine synthase activity
Decreased methionine synthase activity
- MedGen UID: 376395
- Concept ID: C1848580
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased methylmalonyl-CoA mutase activity
Decreased methylmalonyl-CoA mutase activity
- MedGen UID: 336374
- Concept ID: C1848579
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperhomocystinemia
Hyperhomocystinemia
- MedGen UID: 812677
- Concept ID: C3806347
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypomethioninemia
Hypomethioninemia
- MedGen UID: 336368
- Concept ID: C1848555
- Finding: Finding
Abnormality of metabolism/homeostasis
- Methylmalonic acidemia
Methylmalonic acidemia
- MedGen UID: 120654
- Concept ID: C0268583
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Decreased circulating adenosylcobalamin concentration
- Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
- Abnormality of the genitourinary system
- Homocystinuria
Homocystinuria
- MedGen UID: 42485
- Concept ID: C0019880
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Methylmalonic aciduria
Methylmalonic aciduria
- MedGen UID: 343266
- Concept ID: C1855119
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Homocystinuria
- Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
- Abnormality of the nervous system
- Cerebral cortical atrophy
Cerebral cortical atrophy
- MedGen UID: 1646740
- Concept ID: C4551583
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
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
- Lethargy
Lethargy
- MedGen UID: 7310
- Concept ID: C0023380
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spastic ataxia
Spastic ataxia
- MedGen UID: 376528
- Concept ID: C1849156
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral cortical atrophy
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C3 Acylcarnitine, Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA), 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, Propionic and Methylmalonic Acidemia: C3 Elevated, 2022
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