GRACILE SYNDROME

Question 1

What is  GRACILE SYNDROME?

Accepted Answer

rare
autosomal recessive
mutation in the BCS1L gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GRACILE-Syndrom [Growth restriction, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, Early death]

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 603358

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial chaperone BCS1

Disease	GRACILE SYNDROME
Synonym	FELLMAN SYNDROME; GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH
OMIM	603358 OMIM = Online Mendelian Inheritance of Men
Orphanet	53693
Protein (UniProt)	Mitochondrial chaperone BCS1
Gene locus	2q35
ICD	E88.8
Summary	rare autosomal recessive mutation in the BCS1L gene
Laboratory findings	D-Glucose dec (plasma) Ferritin dec (serum) Iron inc (serum) L-Lactic acid inc (plasma)
Symptoms	aminoaciduria cholestasis early death Fanconi syndrome hearing defect, deafness hemosiderosis hypoglycemia hypotonia lactic acidosis liver involvement or dysfunction onset, fetus onset, neonatal renal dysfunction, renal defects seizures short stature small for gestational age (SGA), intrauterine growth retardation (IUGR) tubulopathy