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Summary
MITOCHONDRIAL COMPLEX III DEFICIENCY
Mitochondrial chaperone BCS1
124000
OMIM = Online Medalian Inheritance of Men
1460
2q35
rare
autosomal recessive
mutation in the nuclear-encoded BCS1L gene
symptoms
Amino acids, urine
cataract
cerebellar atrophy or hypoplasia
cerebral atrophy
cholestasis
developmental delay
encephalopathy
failure to thrive
feeding difficulties, poor feeding
hair, abnormal (thin, brittle, fine)
hearing defect, deafness
hypoglycemia
hypotonia
lactic acidosis
liver involvement or dysfunction
metabolic acidosis
muscle weakness
onset, infancy
psychomotor retardation
renal dysfunction, renal defects
laboratory finding
D-Glucose decreasedplasma
Lactic acid increasedplasma
EEG abnormalities - --
MRI, brain, abnormalities - --
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
van Scherpenzeel M,et al.High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.Transl Res1666639-6492015
Huemer M,et al.Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelinesJ Inherit Metab Dis3861007-10192015
Mohamed M,et al.Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transportNeurology817681-6872013
Ng BG,et al.Molecular and clinical characterization of a Moroccan Cog7 deficient patientMol Genet Metab912201-2042007
Zeevaert R,et al.A new mutation in COG7 extends the spectrum of COG subunit deficienciesEur J Med Genet522303-3052009
Barone R,Fiumara A, Jaeken JCongenital disorders of glycosylation with emphasis on cerebellar involvementSemin Neurol343357-3662014
Mohamed M,et al.Metabolic cutis laxa syndromesJ Inherit Metab Dis344907-9162011
Balamurugan K,et al.Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetesClin Genet906486-4952016