2-KETOADIPIC ACIDEMIA

Question 1

What is  2-KETOADIPIC ACIDEMIA?

Accepted Answer

rare
autosomal recessive
see Alpha-aminoadipic aciduria (204750) several affected individuals have been described with no clinical symptoms

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

2-Ketoadipinazidämie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 245130

Question 4

Which enzymes are involved?

Accepted Answer

2-ketoadipic dehydrogenase, E1 or E2 component

Disease	2-KETOADIPIC ACIDEMIA
Synonym	KETOADIPICACIDURIA;
OMIM	245130 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	unknown
ICD	---
Summary	rare autosomal recessive see Alpha-aminoadipic aciduria (204750) several affected individuals have been described with no clinical symptoms
Laboratory findings	2-Aminoadipic acid inc (plasma) 2-Aminoadipic acid inc (urine) 2-Hydroxyadipic acid inc (urine) 2-Oxoadipic acid inc (urine) Fumaric acid inc (urine) Malic acid inc (urine) N-Acetyl-2-aminoadipic acid inc (urine) Succinic acid inc (urine)
Symptoms	Amino acids, plasma Amino acids, urine ataxia hypotonia mental retardation metabolic acidosis no clinical symptoms (probably) onset, infancy Organic acids, urine seizures skin defects