What is INFANTILE CEREBELLAR-RETINAL DEGENERATION (ICRD)?

rare autosomal recessive mutation in the aconitase-2 gene

Which enzymes are involved?

Aconitate hydratase, mitochondrial

Disease	INFANTILE CEREBELLAR-RETINAL DEGENERATION (ICRD)
OMIM	614559 OMIM = Online Mendelian Inheritance of Men
Orphanet	318850
Protein (UniProt)	Aconitate hydratase, mitochondrial
ExPASy	4.2.1.3
Gene locus	22q13.2
ICD	E88.8
Summary	rare autosomal recessive mutation in the aconitase-2 gene
Laboratory findings	2-Oxoglutaric acid dec (plasma) cis-Aconitic acid dec (plasma) Isocitric acid dec (plasma)
Symptoms	ataxia cerebellar atrophy or hypoplasia cerebral atrophy failure to thrive hearing defect, deafness hyporeflexia hypotonia microcephaly (<2 SD for age) MRI, brain, abnormalities [-] MRI, brain, white matter abnormalities [-] muscle atrophy nystagmus onset, childhood onset, infancy onset, neonatal optic atrophy psychomotor retardation retinal dystrophy seizures small for gestational age (SGA), intrauterine growth retardation (IUGR) strabismus white matter changes, abnormalities