Definition
An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: <i>cblA, cblB</i> and <i>cblD</i>-variant 2 (<i>cblD</i>v2).
Definition
An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: <i>cblA, cblB</i> and <i>cblD</i>-variant 2 (<i>cblD</i>v2).
Disease data
Classification
Disease
Synonyms
Adenosylcobalamin deficiency
Acyduria metylomalonowa reagująca na witaminę B12
Adenosylcobalamin deficiency Niedobór adenosylcobalaminy
Vitamin B12-responsive methylmalonic aciduria
ORPHA code
28
OMIM code
277410
ICD10 code
E71.1
ICD11 code
5C50.E0
No additional description.
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