Visit Metagene.de!
Summary
GRACILE SYNDROME
FELLMAN SYNDROME GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH
603358
OMIM = Online Medalian Inheritance of Men
53693
2q35
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
L-Lactic acid increasedplasma
Iron increasedserumNeonatal
Literature
Rubio-Gozalbo ME,et al.Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspectsMol Aspects Med. 2004 Oct-Dec25(5-6):521-32.255521-5322004
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 Nerve472224-2292013
Roussel J,et al.Carnitine deficiency induces a short QT syndromeHeart Rhythm131165-1742016
El-Hattab AW,Scaglia FDisorders of carnitine biosynthesis and transportMol Genet Metab1163107-1122015
Joshi PR,Deschauer M2, Zierz SCarnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patientsJ Neurol Sci3381107-1112014
Hitomi T,et al.Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiencyJ Genet941147-1502015
Joshi PR,Deschauer M, Zierz SClinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiencyWien Klin Wochenschr12423851-8542012
Topcu Y,et al.Carnitine palmitoyl transferase II deficiency in an adolescent presenting with rhabdomyolysis and acute renal failurePediatr Emerg Care305343-3442014