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GTR Home > Conditions/Phenotypes > Disorders of Intracellular Cobalamin Metabolism

Disorders of Intracellular Cobalamin Metabolism

Summary

Excerpted from the GeneReview: Disorders of Intracellular Cobalamin Metabolism
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
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

3 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (3 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L, ABCD4
    Summary: ATP binding cassette subfamily D member 4

  • Also known as: CFF, HCF, HCF-1, HCF1, HFC1, MAHCX, MRX3, PPP1R89, VCAF, XLID3, HCFC1
    Summary: host cell factor C1

  • Also known as: CTG-B43a, CTG-B45d, HRIHFB2206, MAHCL, RONIN, SCA51, THAP11
    Summary: THAP domain containing 11

  • Also known as: SBF, STAF, pHZ-1, ZNF143
    Summary: zinc finger protein 143

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