METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE

Question 1

What is  METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE?

Accepted Answer

rare (14 cases)
X-linked recessive
mutation in the host cell factor C1 gene (HCFC1)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Methylmalonazidämie mit Homocystinurie Typ cblX

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 309541

Question 4

Which enzymes are involved?

Accepted Answer

Host cell factor 1

Disease	METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
Synonym	MENTAL RETARDATION, X-LINKED 3; MRX3; HCFC1
OMIM	309541 OMIM = Online Mendelian Inheritance of Men
Orphanet	369962
Protein (UniProt)	Host cell factor 1
Gene locus	Xq28
ICD	E71.1
Summary	rare (14 cases) X-linked recessive mutation in the host cell factor C1 gene (HCFC1)
Laboratory findings	Glycine normal/inc (cerebrospinal fluid) Homocysteine inc (serum) Methylmalonic acid inc (urine) Methylmalonic acid inc (serum)
Symptoms	abnormal movement brachycephaly brain malformation chorea or athetosis developmental delay EEG abnormalities [-] epilepsy failure to thrive hypotonia infantile spasms live threatening illness mental retardation microcephaly (<2 SD for age) neurologic defect or dysfunction psychomotor retardation seizures short stature onset, infancy