NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 (PKAN)

Question 1

What is  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 (PKAN)?

Accepted Answer

rare

autosomal recessive

mutation in the pantothenate kinase-2 gene

- classic PKAN (early childhood onset)

- atypical PKAN (later onset)

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 234600

Question 3

Which enzymes are involved?

Accepted Answer

Pantothenate kinase 2, mitochondrial

Disease	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 (PKAN)
Synonym	PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN
OMIM	234600 OMIM = Online Mendelian Inheritance of Men
Orphanet	157850
Protein (UniProt)	Pantothenate kinase 2, mitochondrial
ExPASy	2.7.1.33
Gene locus	20p13
ICD	G23.0
Summary	rare autosomal recessive mutation in the pantothenate kinase-2 gene - classic PKAN (early childhood onset) - atypical PKAN (later onset)
Laboratory findings	Iron inc (urine)
Symptoms	ataxia behavior, hyperactive, restless dementia depression developmental delay dysarthria dysphagia dystonia extrapyramidal signs feeding difficulties, poor feeding gait disturbance hyperreflexia intellectual disability/intellectual developmental disorder MRI, brain, abnormalities [-] onset, adolescent onset, childhood optic atrophy Parkinsonism pigmentation, skin and sclera retinal or macular degeneration retinitis pigmentosa retinopathy speech development, delayed, abnormal tremor or twitching