ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (AMACRD)

Question 1

What is  ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (AMACRD)?

Accepted Answer

very rare (>5 cases)
autosomal recessive
mutation in the AMACR gene
Inborn errors of bile acid metabolism may present as neonatal cholestasis and fat-soluble vitamin malabsorption or as late onset chronic liver disease [Setchell et al. 2003]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Alpha-Methylacyl-CoA-Racemase-Mangel; Gallensäuresynthesedefekt, kongenitaler, Typ 4

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614307

Question 4

Which enzymes are involved?

Accepted Answer

alpha-methylacyl-CoA racemase

Disease	ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (AMACRD)
Synonym	AMACR DEFICIENCY
OMIM	614307 OMIM = Online Mendelian Inheritance of Men
Orphanet	79095
Protein (UniProt)	alpha-methylacyl-CoA racemase
ExPASy	5.1.99.4
Gene locus	5p13.2
ICD	K76.8
Summary	very rare (>5 cases) autosomal recessive mutation in the AMACR gene Inborn errors of bile acid metabolism may present as neonatal cholestasis and fat-soluble vitamin malabsorption or as late onset chronic liver disease [Setchell et al. 2003]
Laboratory findings	Dihydroxycholestanoic acid (DHCA) inc (plasma) Phosphatase, alkaline inc (serum) Phytanic acid normal/inc (plasma) Pristanic acid inc (plasma) Transaminases (ASAT/ALAT) inc (plasma) Trihydroxycholestanoic acid (THCA) inc (plasma)
Symptoms	ataxia blindness, visual loss, visual impairment cholestasis developmental delay diarrhea dysarthria encephalopathy epilepsy gallstones, cholelithiasis giant cell hepatitis headache (severe, recurrent or occipital, migraine) impaired visual acuity intellectual disability/intellectual developmental disorder liver involvement or dysfunction motor retardation MRI, brain, white matter abnormalities [-] neuropathy onset, adulthood onset, childhood paraparesis/paraplegia paresis retinitis pigmentosa retinopathy seizures status epilepticus tremor or twitching