HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE

Question 1

What is  HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE?

Accepted Answer

rare (40 cases)
autosomal recessive
mutation in the MTR gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Methylcobalamin-Mangel Typ Cbl G; Funktioneller Methionin-Synthase-Mangel Typ Cbl G

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 250940

Question 4

Which enzymes are involved?

Accepted Answer

methionine synthase

Disease	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE
Synonym	METHYLCOBALAMIN DEFICIENCY, cblG TYPE
OMIM	250940 OMIM = Online Mendelian Inheritance of Men
Orphanet	2170
Protein (UniProt)	methionine synthase
ExPASy	2.1.1.13,
Gene locus	1q43
ICD	E72.1
Summary	rare (40 cases) autosomal recessive mutation in the MTR gene
Laboratory findings	Betaine normal/inc (urine) L-Homocystine inc (urine) Methionine dec (plasma) Methylmalonic acid inc (urine)
Symptoms	anemia blindness, visual loss, visual impairment cerebral atrophy failure to thrive feeding difficulties, poor feeding hypotonia leukoencephalopathy megaloblastic anemia mental retardation nystagmus onset, infancy psychomotor retardation seizures VEP (visual evoked potentials), abnormal