2-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY

Question 1

What is  2-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY?

Accepted Answer

very rare (7 cases)
autosomal recessive
2-oxoglutaric acidemia is found in many organic acidopathies, excretion of 2-oxoglutaric acid in neonates and young infants (immaturity of hepatic enzymes, urinary tract infections)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Oxoglutarazidurie; Alpha-Ketoglutarat-Dehydrogenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 203740

Question 4

Which enzymes are involved?

Accepted Answer

Alpha-ketoglutarate dehydrogenase (2-oxoglutarate dehydrogenase)

Disease	2-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY
Synonym	ALPHA-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY ; ACIDEMIA, 2-OXOGLUTARIC
OMIM	203740 OMIM = Online Mendelian Inheritance of Men
Orphanet	31
ExPASy	1.2.4.2
Gene locus	7p13 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Oxoglutarate dehydrogenase, lipoamide (alpha-ketoglutarate dehydrogenase)
ICD	E88.8
Summary	very rare (7 cases) autosomal recessive 2-oxoglutaric acidemia is found in many organic acidopathies, excretion of 2-oxoglutaric acid in neonates and young infants (immaturity of hepatic enzymes, urinary tract infections)
Laboratory findings	Sedoheptulose-7-phosphate inc (urine) 2-Oxoglutaric acid inc (urine) Citric acid normal/inc (urine) D-Glucose normal/dec (blood) Fumaric acid inc (urine) L-Lactic acid inc (blood) Lactate/Pyruvate ratio inc (blood) Malic acid normal/inc (urine) Succinic acid normal/inc (urine)
Symptoms	ataxia behavior, abnormal or bizarre, confusion cardiomyopathy cerebellar atrophy or hypoplasia chorea or athetosis early death encephalopathy failure to thrive hearing defect, deafness hypoglycemia hypotonia lactic acidosis liver involvement or dysfunction metabolic acidosis motor retardation onset, childhood onset, infancy opisthotonus Organic acids, urine osteodystrophy progressive neurologic defect psychomotor retardation pyramidal signs seizures sudden death tremor or twitching