HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (HMAE)

Question 1

What is  HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE  (HMAE)?

Accepted Answer

very (>30 cases)
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Methylcobalamin-Mangel Typ Cbl E; Methionin-Synthase-Mangel Typ cblE, funktionaler

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 236270

Question 4

Which enzymes are involved?

Accepted Answer

methionine synthase reductase

Disease	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (HMAE)
Synonym	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE, MTRR
OMIM	236270 OMIM = Online Mendelian Inheritance of Men
Orphanet	2169
Protein (UniProt)	methionine synthase reductase
ExPASy	1.16.1.8
Gene locus	5p15.31
ICD	E72.1
Summary	very (>30 cases) autosomal recessive
Laboratory findings	Betaine normal/inc (urine) Hemoglobine normal/dec (blood) L-Homocystine inc (plasma) L-Homocystine inc (urine) Methionine dec (plasma) Methylmalonic acid inc (urine)
Symptoms	Amino acids, plasma Amino acids, urine anemia ataxia cortical or cerebral atrophy early death EEG abnormalities [-] failure to thrive feeding difficulties, poor feeding headache (severe, recurrent or occipital, migraine) hypotonia infections (severe or recurrent) lethargy, drowsiness, apathy megaloblastic anemia mental retardation microcephaly (<2 SD for age) neurological deterioration nystagmus onset, childhood onset, infancy retinopathy seizures vomiting