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Methylmalonic acidemia with homocystinuria, type cblD

Disease definition

cblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.

ORPHA:79283

Classification level: Subtype of disorder
  • Synonym(s):
    • CblD defect
    • Cobalamin D defect
    • Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
    • Methylmalonic aciduria with homocystinuria, type cblD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.1
  • ICD-11: 5C50.E0
  • OMIM: 277410
  • UMLS: C1848552
  • MeSH: C564743
  • GARD: 3582
  • MedDRA: -

Summary

Epidemiology

To date, 17 cases of cblD have been reported (6 classic cblD, 5 cblDv1 and 6 cblDv2).

Clinical description

Three different presentations have been described: the classic form with combined methylmalonic aciduria and homocystinuria; cblD variant 1 (cblDv1) with isolated homocystinuria; and cblD variant 2 (cblDv2) with isolated methylmalonic aciduria. Clinical presentation is extremely variable. The disorder can present from early infancy to late childhood. Presenting signs are variable depending on which aspect(s) of cobalamin metabolism are affected and can include developmental delay, severe learning difficulties, seizures, movement and gait abnormalities, behavioral problems and signs of megaloblastic anemia (pallor, fatigue, anorexia).

Etiology

The causal gene for cblD is MMADHC (2q23.2) and the disorder is transmitted in an autosomal recessive manner.

Expert reviewer(s):  Dr David ROSENBLATT - Dr David WATKINS - Last update: March 2012

  A summary on this disease is available in Deutsch (2012) Español (2012) Italiano (2012) Nederlands (2012) Português (2012) Français (2011) Polski (2012, PDF)

Detailed information

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ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.