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La deficiencia de la Coenzima Q10 trae como

consecuencia pura, miopata con
encefalopata, atrofia cerebelosa con ataxia y
enfermedad multisistmica infantil,
encefalopata y nefropata.
Se ha demostrado que las mutaciones en
algunos genes implicados en la biosntesis de
la CoQ10 causa la deficiencia en CoQ10
primaria.
Syndrome Number
of
cases
(new
cases)
Clinical features Natural history Responsible
genes
(numbers of
patients/fami
lies)
Encephalomyopathy 4 Juvenile-onset mitochondrial
myopathy, recurrent
myoglobinuria,
and encephalopathy
Slow progression
of weakness
None known
Isolated myopathy 14 (4) Juvenile or adult-onset muscle
weakness, myoglobinuria,
exercise
intolerance, cramps, myalgias,
elevated CK
Slow progression
of weakness
ETFDH (7/5)
Nephropathy 11 Infantile or early childhood-
onset
steroid-resistant nephrotic
syndrome.
May progress to
renal failure.
Encephalopathy
may develop.
COQ2 (2/2),
Infantile
multisystemic
disease
17 (2) Infantile-onset
psychomotor
regression,
encephalopathy,
optic
atrophy,
retinopathy,
hearing loss,
renal dysfunction
(mainly nephrotic
syndrome). Less
common: liver,
cardiac, and
pancreatic
dysfunction
and obesity.
Typically
progresses rapidly
with high
mortality
(11/17=65%)
COQ2 (4/3?), PDS
S2 (1/1),
COQ9 (1/1) PDSS
1 (1/1),
COQ6 (3/?)
Cerebellar ataxia 94 (23) Typically juvenile-
onset cerebellar
ataxia. Multiple
additional
neurological and
non-neurological
manifestations
may occur.
Slow or minimal
progression of
ataxia.
ADCK3 (22/13?),
APTX
(12/8?)
Situaciones ambientales
Piericidina(antibitico) , amital (barbiturato), y
la rotenona, un producto vegetal obtenido de las
plantas que se usa como insecticida y pesticida,
bloquean la cadena de transporte electrnico
entre la NADH deshidrogenasa (Complejo I) y la
CoQ10.
Complejo II es inhibido por la carboxina y
teniltrifluoroacetona.
Antimicina A (antibitico) lo hace entre CoQ y Cit
b.


Referencias
Heterogeneity of coenzyme Q
10
deficiency: Patient Study and Literature Review V Emmanuele, LC
Lpez, A Berardo, A Naini, S Tadesse, B Wen, E DAgostino, M Salomon, S DiMauro, CM Quinzii, M
Hirano Arch Neurol. Author manuscript; available in PMC 2013 April 30.Published in final edited
form as: Arch Neurol. 2012 August; 69(8): 978983. doi: 10.1001/archneurol.2012.206.
RAMIREZ, Augusto V.. Toxicidad del cianuro: Investigacin bibliogrfica de sus efectos en
animales y en el hombre. An. Fac. med. [online]. 2010, vol.71, n.1 [citado 2014-09-11], pp.
54-61 . Disponible en: <http://www.scielo.org.pe/scielo.php?script=sci_arttext&pid=S1025-
55832010000100011&lng=es&nrm=iso>. ISSN 1025-5583.
http://books.google.com.mx/books?id=TLBUs0vuZxEC&pg=PA34&lpg=PA34&dq=toxicos+para+Coe
nzima+Q10&source=bl&ots=TXmrG2vJKp&sig=ZVKQKwW_OlbfVuwikzmbj_Igl0Y&hl=es-
419&sa=X&ei=UzoRVJjyN4a_8gGmoYEI&ved=0CFYQ6AEwBw#v=onepage&q=toxicos%20para%20C
oenzima%20Q10&f=false
http://compartments.jensenlab.org/Entity?figures=subcell_cell_%&knowledge=10&textmining=10
&experiments=10&predictions=10&type1=9606&type2=-22&id1=ENSP00000263960 consultada
11/09/2014
http://books.google.com.mx/books?id=p3DCb9lTLx8C&pg=PA575&lpg=PA575&dq=Amital+barbitur
ato&source=bl&ots=Y-WEUPRgZO&sig=fcgcP3t1SekSj0f9lxDxUYBhNyQ&hl=es-
419&sa=X&ei=uEMRVMmSOIXH8AHu44C4Dw&ved=0CD8Q6AEwBQ#v=onepage&q=Amital%20bar
biturato&f=false