METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE

Question 1

What is  METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE?

Accepted Answer

rare (3 cases)
autosomal recessive
mutation in the ABCD4 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Methylmalonazidämie mit Homocystinurie Typ cblJ

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614857

Question 4

Which enzymes are involved?

Accepted Answer

ATP-binding cassette sub-family D member 4

Disease	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
OMIM	614857 OMIM = Online Mendelian Inheritance of Men
Orphanet	369955
Protein (UniProt)	ATP-binding cassette sub-family D member 4
ExPASy	---
Gene locus	11q24.3
ICD	E71.1
Summary	rare (3 cases) autosomal recessive mutation in the ABCD4 gene
Laboratory findings	Betaine normal/inc (urine) Homocysteine inc (serum) Homocysteine inc (urine) Methylmalonic acid inc (serum) Methylmalonic acid inc (urine)
Symptoms	anemia blindness, visual loss, visual impairment cerebral atrophy congenital heart defect developmental delay failure to thrive feeding difficulties, poor feeding hypotonia megaloblastic anemia cardiomyopathy cryptorchism lethargy, drowsiness, apathy liver involvement or dysfunction nystagmus onset, childhood onset, infancy onset, neonatal pulmonary hypertension retinopathy tachypnea, hyperpnea, dyspnea, hyperventilation