MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (DHFRD)

rare (<1:1000000) autosomal recessive mutation in the dihydrofolate reductase gene

Konstitutionelle megaloblastäre Anämie mit schwerer neurologischer Krankheit

Question 1

What is  MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (DHFRD)?

Accepted Answer

rare (<1:1000000)
autosomal recessive
mutation in the dihydrofolate reductase gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Konstitutionelle megaloblastäre Anämie mit schwerer neurologischer Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613839

Question 4

Which enzymes are involved?

Accepted Answer

Dihydrofolate reductase

Disease	MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (DHFRD)
Synonym	DHFR DEFICIENCY
OMIM	613839 OMIM = Online Mendelian Inheritance of Men
Orphanet	319651
Protein (UniProt)	Dihydrofolate reductase
ExPASy	1.5.1.3
Gene locus	5q14.1
ICD	D52.8
Summary	rare (<1:1000000) autosomal recessive mutation in the dihydrofolate reductase gene
Laboratory findings	5-Hydroxyindolacetic acid (5-HIAA) normal/dec (cerebrospinal fluid) 5-Methyltetrahydrofolate (5-MTHF) decreased (cerebrospinal fluid) Formiminoglutamic acid (FIGLU) normal/inc (urine) Homovanillic acid (HVA) normal/dec (cerebrospinal fluid) Methylmalonic acid normal/inc (urine) Orotic acid normal/inc (urine)
Symptoms	anemia ataxia cerebellar atrophy or hypoplasia cerebral atrophy developmental delay feeding difficulties, poor feeding hepatomegaly (large liver) hypotonia learning disability megaloblastic anemia microcephaly (<2 SD for age) onset, childhood onset, infancy pallor pancytopenia seizures thrombopenia, thrombocytopenia