Autosomal recessive hereditary disorder
General loss of peroxisomal function
Synthetic defect of bile acids
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Alpha-methylacyl-CoA racemase deficiency disorder (disorder)
Alpha-methylacyl-CoA racemase deficiency disorder
Congenital bile acid synthesis defect type 4
AMACR deficiency
An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, hematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.
Id700463002
StatusPrimitive
OccurrenceCongenital
Finding siteLiver structure
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetK76.8
RuleTRUE
AdviceALWAYS K76.8
CorrelationSNOMED CT source code to target map code correlation not specified