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Summary

Disease	MYOCLONIC EPILEPSY AND RAGGED RED FIBER DISEASE (MERRF)
Synonym	MERRF SYNDROME FUKUHARA SYNDROME
OMIM	545000 OMIM = Online Medalian Inheritance of Men
Orphanet	551
Gene locus
Summary	rare mitochondrial 80-90 % heteroplasmic for G->A point mutation of the tRNA gene * diagnosis: mitochondrial DNA analysis in leukocytes muscle biopsy with histochemistry, electron microscopy and immediate isolation of mitochondria

symptoms

ataxia

cardiomyopathy

epilepsy

headache (severe, recurrent or occipital, migraine)

hearing defect, deafness

hypertonia, spasticity

lactic acidosis

mental retardation

metabolic acidosis

muscle weakness

myoclonus

myopathy

onset, childhood

optic atrophy

respiratory insufficiency

seizures

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
L-Lactic acid	2.00	6.00	0.90	1.80	mmol/l	blood
Lactate/Pyruvate ratio	20.00	40.00	11.00	18.00	ratio	blood
EEG abnormalities -
PET (positron emission tomography), abnormal -
VER, abnormal -
Electron microscopy -

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Rutledge SL	Berry GT, Stanley CA, van Hove JLK, Millington D	Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency	J Inherit Metab Dis		18	0	299-305	1995
Tang M,	et al.	Innovative therapy for Classic Galactosemia - tale of two HTS	Mol Genet Metab		105	1	44-45	2012
Stanley CA	DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnenfont JP, Saudubray JM, Haymond M, Trefz FK et al.	Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake	Ann Neurol		30	0	709-716	1991
Berry GT		Galactosemia: when is it a newborn screening emergency?	Mol Genet Metab		106	1	1-11	2012
Wanders RJA	Mooyer P	D-2-Hydroxyglutaric acidemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria	J Inherit Metab Dis		18	0	196-196	1995
McCorvie TJ,	Timson DJ	The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.	UBMB Life		63	9	694-700	2011
Schuelke M	et al.	Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency	J Pediatr		134	0	240-244	1999
Yokota T	et al.	Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein	N Engl J Med		335	0	1770-1771	1996
Christensen E	Vikre-J+Ârgensen J	Six years experience with carnitine supplementation in a patient with an inherited defective carnitine transport system	J Inherit Metab Dis		18	0	233-236	1995
Hagenfeldt L	Venizelos N, von D+Âbeln U	Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	J Inherit Metab Dis		18	0	245-248	1995
Doerflinger N	et al.	Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families	Am J Hum Genet		56	0	1116-1124	1995
Guneral F	Bachmann C	Age-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric Population	Clin Chem		40	6	862-868	1994
Rosenblatt DS		Inherited disorders of folate transport and metabolism	The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.		2	0	3111-3128	1995
Hagberg BA	et al.	Carbohydrate-deficient glycoprotein syndrome: peculiar group of new disorders	Pediatr Neurol		9	4	255-262	1993
Willems PJ	Gerver WJM, Berger R, Fernandes J	The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients	Eur J Pediatr		149	0	268-271	1990