Hyperlysinemia, type I

General Information (adopted from Orphanet):

Synonyms, Signs: Lysine:alpha-ketoglutarate reductase deficiency
Alpha-aminoadipic semialdehyde synthase deficiency
Lysine intolerance
L-Lysine:NAD-oxido-reductase deficiency
Number of Symptoms 35
OrphanetNr:
OMIM Id: 238700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
23570448 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hyperlysinemia
 -Rare genetic disease

Comment:

AASS (alpha-aminoadipate delta-semialdehyde synthase) is a bifunctional enzyme. The reaction forms saccharopine as an intermediate and 2-aminoadipic semialdehyde as the final product. Familial hyperlysinemia includes two conditions: hyperlysinemia type I, which presents with pipecolic aciduria, and hyperlysinemia type II, which presents with saccharopinuria. Defects in one or both activities result in familial hyperlysinemia (PMID:23890588). Hyperlysinemia is described as a disorder that results from reduced activity of LKR and/or of SDH (PMID:10775527).

Symptom Information: Sort by abundance 

1
(HPO:0003297) Hyperlysinuria 23890588 IBIS 10 / 7739
2
(HPO:0000252) Microcephaly 23570448 IBIS 832 / 7739
3
(HPO:0001363) Craniosynostosis 23570448 IBIS 132 / 7739
4
(HPO:0000319) Smooth philtrum 23570448 IBIS 72 / 7739
5
(HPO:0000457) Depressed nasal ridge 23570448 IBIS 85 / 7739
6
(HPO:0000535) Sparse and thin eyebrow 23570448 IBIS 76 / 7739
7
(HPO:0000609) Optic nerve hypoplasia 23890588 IBIS 26 / 7739
8
(HPO:0000750) Delayed speech and language development 23570448 IBIS 197 / 7739
9
(HPO:0002353) EEG abnormality 23890588 IBIS 188 / 7739
10
(HPO:0006801) Hyperactive deep tendon reflexes 23570448 IBIS 21 / 7739
11
(HPO:0002075) Dysdiadochokinesis 23890588 IBIS 40 / 7739
12
(HPO:0002312) Clumsiness 23890588 IBIS 28 / 7739
13
(HPO:0001264) Spastic diplegia 23570448 IBIS 24 / 7739
14
(HPO:0001337) Tremor 23890588 IBIS 200 / 7739
15
(HPO:0002273) Tetraparesis 23570448 IBIS 15 / 7739
16
(HPO:0007018) Attention deficit hyperactivity disorder 23890588 IBIS 56 / 7739
17
(HPO:0000708) Behavioral abnormality 23570448 IBIS 212 / 7739
18
(HPO:0001250) Seizures 23570448 IBIS 1245 / 7739
19
(HPO:0001263) Global developmental delay 23570448 IBIS 853 / 7739
20
(HPO:0001249) Intellectual disability 23570448 IBIS 1089 / 7739
21
(HPO:0011097) Epileptic spasms 23570448 IBIS 45 / 7739
22
(HPO:0001270) Motor delay 23570448 IBIS 322 / 7739
23
(HPO:0002020) Gastroesophageal reflux 23570448 IBIS 101 / 7739
24
(HPO:0002013) Vomiting 23570448 IBIS 191 / 7739
25
(HPO:0004322) Short stature 23890588 IBIS 1232 / 7739
26
(HPO:0001508) Failure to thrive 23570448 IBIS 454 / 7739
27
(HPO:0002161) Hyperlysinemia 23570448 IBIS 7 / 7739
28
(HPO:0008947) Infantile muscular hypotonia 23570448 IBIS 482 / 7739
29
(HPO:0001252) Muscular hypotonia 23570448 IBIS 990 / 7739
30
(HPO:0001324) Muscle weakness 571908 IBIS 859 / 7739
31
(OMIM) Aminoadipic semialdehyde synthase (AASS) deficiency 23570448 IBIS 1 / 7739
32
(OMIM) Serum pipecolic acid elevated 23890588 IBIS 2 / 7739
33
(OMIM) Saccharopine dehydrogenase deficiency 23570448 IBIS 1 / 7739
34
(OMIM) Lysine-ketoglutarate reductase deficiency 23570448 IBIS 1 / 7739
35
(OMIM) Homocitrullinuria 23890588 IBIS 2 / 7739

Associated genes:

AASS;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ghadimi et al. (1965) found hyperlysinemia in 2 unrelated mentally retarded patients, one of whom was the product of father-daughter incest. The level of lysine in the cerebrospinal fluid was also elevated. Blood levels rose abnormally with lysine ...
Molecular genetics OMIM In a patient with hyperlysinemia originally reported by Dancis et al. (1976), Sacksteder et al. (2000) found homozygosity for an out-of-frame 9-bp deletion in exon 15 of the AASS gene (605113.0001).