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Summary

Disease	PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
OMIM	245349 OMIM = Online Medalian Inheritance of Men
Orphanet	765
Gene locus	11p13
Summary	rare autosomal recessive mutation in the PDX1 gene

symptoms

ataxia

brain, cortical or paraventricular cysts

dystonia

early death

encephalopathy

hypotonia

lactic acidosis

mental retardation

metabolic acidosis

microcephaly

onset, newborn

optic atrophy

seizures

spastic diplegia/quadriplegia

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
Lactate					increased	serum
Pyruvate, Pyruvic acid					increased	serum
Alanine					increased	serum

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Herskhovitz E	et al.	Bone marrow transplantatin for Maroteaux-Lamy syndrome (MPS VI): long-term follow up	J Inherit Metab Dis		22	0	50-62	1999
Ohura T	et al.	Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics	J Inherit Metab Dis		22	0	74-80	1999
Libert R	et al.	Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency	J Inherit Metab Dis		22	0	9-19	1999