Synonym(s): - Fellman disease - Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death - Growth restriction - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death
Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease Entire classification		Classification (ICD10): (no data available)
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C537934
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
BCS1L	Q9Y276	603647

- Aminoacid metabolism anomalies / aminoaciduria
- Autosomal recessive inheritance
- Cirrhosis
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Hepatitis / icterus / cholestasis
- Hyperferritinemia / iron overload
- Liver / hepatic steatosis
- Renal tubular defect / tubulopathy

- Brittle hair / distrix / trichorrhexis
- Early death / lethality