METHYLMALONIC ACIDURIA, cblB TYPE

Question 1

What is  METHYLMALONIC ACIDURIA, cblB TYPE?

Accepted Answer

rare (>60 cases)
autosomal recessive
mutations in the MMAB gene
patients with cblB are less responsive to vitamin B12 therapy than those with cblA

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Vitamin-B12-sensible Methylmalonazidämie Typ CblB

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 251110

Question 4

Which enzymes are involved?

Accepted Answer

Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial

Disease	METHYLMALONIC ACIDURIA, cblB TYPE
Synonym	METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE
OMIM	251110 OMIM = Online Mendelian Inheritance of Men
Orphanet	79311
Protein (UniProt)	Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
ExPASy	2.5.1.17
Gene locus	12q24.11
ICD	E71.1
Summary	rare (>60 cases) autosomal recessive mutations in the MMAB gene patients with cblB are less responsive to vitamin B12 therapy than those with cblA
Laboratory findings	Ammonia normal/inc (blood) Glycine inc (plasma) Ketone bodies (urine) normal/inc (urine) Methylmalonic acid inc (serum) Methylmalonic acid inc (urine) Thrombocytes, Platelets dec (blood)
Symptoms	Encephalopathic crisis, acute ketosis, ketoacidosis dehydration encephalopathy failure to thrive intellectual disability/intellectual developmental disorder metabolic acidosis optic neuropathy pancreatitis renal failure, chronic vomiting anemia basal ganglia, changes, lesions, calcifications (MRI, CT) coma developmental delay feeding difficulties, poor feeding hepatomegaly (large liver) hyperammonemia hyperglycemia hypotonia lethargy, drowsiness, apathy MRI, brain, abnormalities [-] neutropenia (decreased neutrophils) onset, childhood onset, neonatal pancytopenia respiratory distress thrombopenia, thrombocytopenia