GRACILESYNDROME

Summary

Disease	GRACILE SYNDROME
Synonym	FELLMAN SYNDROME GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH
OMIM	603358 OMIM = Online Medalian Inheritance of Men
Orphanet	53693
Gene locus	2q35
Summary	rare autosomal recessive mutation in the BCS1L gene

symptoms

aminoaciduria, generalized

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

laboratory finding

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Rubio-Gozalbo ME,	et al.	Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects	Mol Aspects Med. 2004 Oct-Dec25(5-6):521-32.		25	5	521-532	2004
Isackson PJ,	et al.	Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency.	Muscle Nerve		47	2	224-229	2013
Roussel J,	et al.	Carnitine deficiency induces a short QT syndrome	Heart Rhythm		13	1	165-174	2016
El-Hattab AW,	Scaglia F	Disorders of carnitine biosynthesis and transport	Mol Genet Metab		116	3	107-112	2015
Joshi PR,	Deschauer M2, Zierz S	Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients	J Neurol Sci		338	1	107-111	2014
Hitomi T,	et al.	Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency	J Genet		94	1	147-150	2015
Joshi PR,	Deschauer M, Zierz S	Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency	Wien Klin Wochenschr		124	23	851-854	2012
Topcu Y,	et al.	Carnitine palmitoyl transferase II deficiency in an adolescent presenting with rhabdomyolysis and acute renal failure	Pediatr Emerg Care		30	5	343-344	2014