Hyperlysinemias [hyperlysinemie]

topical
Terms

aminoadipát-semialdehyddehydrogenasa - nedostatek
familiární hyperlysinemie
hyperlysinémie
hyperlysinurie s hyperamonemií
hyperlyzinemie
lysinalfaketoglutarátreduktasa - nedostatek
nedostatek aminoadipát-semialdehyddehydrogenázy
nedostatek lysinalfaketoglutarátreduktázy
nedostatek sacharopindehydrogenázy
periodická hyperlysinemie
sacharopindehydrogenasa - nedostatek

 

Alpha-Aminoadipic Semialdehyde Deficiency Disease
Deficiency Disease, Alpha-Aminoadipic Semialdehyde
Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase
Deficiency Disease, Saccharopine Dehydrogenase
Familial Hyperlysinemia
Hyperlysinemia
Hyperlysinemia, Familial
Hyperlysinemia, Periodic
Hyperlysinuria With Hyperammonemia
L-Lysine:NAD-Oxido-Reductase Deficiency
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine:Alpha-Ketoglutarate Reductase Deficiency
Saccharopine Dehydrogenase Deficiency Disease

Persistent link   https://www.medvik.cz/link/D020167
Definition

A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)

DUI
D020167 MeSH Browser
CUI
M0328333
Previous indexing
Amino Acid Metabolism, Inborn Errors (1965-1999); Lysine/metabolism (1966-1999)
History note
2000
Public note
2000

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 897
C10.228 Central Nervous System Diseases 811
C10.228.140 Brain Diseases 1 186
C10.228.140.163 Brain Diseases, Metabolic 85
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 28
C10.228.140.163.100.084 Adrenoleukodystrophy 43
C10.228.140.163.100.168 Cerebral Amyloid Angiopathy, Familial 1
C10.228.140.163.100.320 Galactosemias 44
C10.228.140.163.100.355 Hartnup Disease 2
C10.228.140.163.100.360 Hepatolenticular Degeneration 243
C10.228.140.163.100.362 Hereditary Central Nervous System Demyelinating Diseases 12
C10.228.140.163.100.365 Homocystinuria 108
C10.228.140.163.100.375 Hyperglycinemia, Nonketotic 7
C10.228.140.163.100.380 Hyperlysinemias
C10.228.140.163.100.412 Leigh Disease 26
C10.228.140.163.100.425 Lesch-Nyhan Syndrome 20
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 14
C10.228.140.163.100.520 Maple Syrup Urine Disease 8
C10.228.140.163.100.535 MELAS Syndrome 17
C10.228.140.163.100.540 Menkes Kinky Hair Syndrome 12
C10.228.140.163.100.545 MERRF Syndrome 4
C10.228.140.163.100.593 Mevalonate Kinase Deficiency 16
C10.228.140.163.100.640 Oculocerebrorenal Syndrome 9
C10.228.140.163.100.687 Phenylketonurias 287
C10.228.140.163.100.725 Pyruvate Carboxylase Deficiency Disease
C10.228.140.163.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C10.228.140.163.100.813 Refsum Disease 6
C10.228.140.163.100.844 Refsum Disease, Infantile
C10.228.140.163.100.875 Tyrosinemias 18
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn 7
C10.228.140.163.100.968 Zellweger Syndrome 10
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 219
C16.320.565 Metabolism, Inborn Errors 715
C16.320.565.100 Amino Acid Metabolism, Inborn Errors 124
C16.320.565.100.102 Albinism 17
C16.320.565.100.187 Alkaptonuria 76
C16.320.565.100.477 Hyperglycinemia, Nonketotic 7
C16.320.565.100.480 Hyperhomocysteinemia 212
C16.320.565.100.544 Hyperlysinemias
C16.320.565.100.608 Maple Syrup Urine Disease 8
C16.320.565.100.614 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 2
C16.320.565.100.620 Multiple Carboxylase Deficiency
C16.320.565.100.766 Phenylketonurias 287
C16.320.565.100.794 Prolidase Deficiency
C16.320.565.100.823 Propionic Acidemia 3
C16.320.565.100.880 Tyrosinemias 18
C16.320.565.100.940 Urea Cycle Disorders, Inborn 7
C16.320.565.189 Brain Diseases, Metabolic, Inborn 28
C16.320.565.189.084 Adrenoleukodystrophy 43
C16.320.565.189.168 Cerebral Amyloid Angiopathy, Familial 1
C16.320.565.189.320 Galactosemias 44
C16.320.565.189.355 Hartnup Disease 2
C16.320.565.189.360 Hepatolenticular Degeneration 243
C16.320.565.189.362 Hereditary Central Nervous System Demyelinating Diseases 12
C16.320.565.189.365 Homocystinuria 108
C16.320.565.189.375 Hyperglycinemia, Nonketotic 7
C16.320.565.189.380 Hyperlysinemias
C16.320.565.189.412 Leigh Disease 26
C16.320.565.189.425 Lesch-Nyhan Syndrome 20
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 14
C16.320.565.189.520 Maple Syrup Urine Disease 8
C16.320.565.189.535 MELAS Syndrome 17
C16.320.565.189.540 Menkes Kinky Hair Syndrome 12
C16.320.565.189.545 MERRF Syndrome 4
C16.320.565.189.593 Mevalonate Kinase Deficiency 16
C16.320.565.189.640 Oculocerebrorenal Syndrome 9
C16.320.565.189.687 Phenylketonurias 287
C16.320.565.189.725 Pyruvate Carboxylase Deficiency Disease
C16.320.565.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.565.189.813 Refsum Disease 6
C16.320.565.189.844 Refsum Disease, Infantile
C16.320.565.189.875 Tyrosinemias 18
C16.320.565.189.937 Urea Cycle Disorders, Inborn 7
C16.320.565.189.968 Zellweger Syndrome 10
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 205
C18.452.132 Brain Diseases, Metabolic 85
C18.452.132.100 Brain Diseases, Metabolic, Inborn 28
C18.452.132.100.084 Adrenoleukodystrophy 43
C18.452.132.100.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.132.100.320 Galactosemias 44
C18.452.132.100.355 Hartnup Disease 2
C18.452.132.100.360 Hepatolenticular Degeneration 243
C18.452.132.100.362 Hereditary Central Nervous System Demyelinating Diseases 12
C18.452.132.100.365 Homocystinuria 108
C18.452.132.100.375 Hyperglycinemia, Nonketotic 7
C18.452.132.100.380 Hyperlysinemias
C18.452.132.100.412 Leigh Disease 26
C18.452.132.100.425 Lesch-Nyhan Syndrome 20
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 14
C18.452.132.100.520 Maple Syrup Urine Disease 8
C18.452.132.100.535 MELAS Syndrome 17
C18.452.132.100.540 Menkes Kinky Hair Syndrome 12
C18.452.132.100.545 MERRF Syndrome 4
C18.452.132.100.593 Mevalonate Kinase Deficiency 16
C18.452.132.100.640 Oculocerebrorenal Syndrome 9
C18.452.132.100.687 Phenylketonurias 287
C18.452.132.100.725 Pyruvate Carboxylase Deficiency Disease
C18.452.132.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.132.100.813 Refsum Disease 6
C18.452.132.100.844 Refsum Disease, Infantile
C18.452.132.100.875 Tyrosinemias 18
C18.452.132.100.937 Urea Cycle Disorders, Inborn 7
C18.452.132.100.968 Zellweger Syndrome 10
C18.452.648 Metabolism, Inborn Errors 715
C18.452.648.100 Amino Acid Metabolism, Inborn Errors 124
C18.452.648.100.102 Albinism 17
C18.452.648.100.187 Alkaptonuria 76
C18.452.648.100.477 Hyperglycinemia, Nonketotic 7
C18.452.648.100.480 Hyperhomocysteinemia 212
C18.452.648.100.544 Hyperlysinemias
C18.452.648.100.608 Maple Syrup Urine Disease 8
C18.452.648.100.614 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 2
C18.452.648.100.620 Multiple Carboxylase Deficiency
C18.452.648.100.766 Phenylketonurias 287
C18.452.648.100.823 Propionic Acidemia 3
C18.452.648.100.880 Tyrosinemias 18
C18.452.648.100.940 Urea Cycle Disorders, Inborn 7
C18.452.648.189 Brain Diseases, Metabolic, Inborn 28
C18.452.648.189.084 Adrenoleukodystrophy 43
C18.452.648.189.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.648.189.320 Galactosemias 44
C18.452.648.189.355 Hartnup Disease 2
C18.452.648.189.360 Hepatolenticular Degeneration 243
C18.452.648.189.362 Hereditary Central Nervous System Demyelinating Diseases 12
C18.452.648.189.365 Homocystinuria 108
C18.452.648.189.375 Hyperglycinemia, Nonketotic 7
C18.452.648.189.380 Hyperlysinemias
C18.452.648.189.412 Leigh Disease 26
C18.452.648.189.425 Lesch-Nyhan Syndrome 20
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 14
C18.452.648.189.520 Maple Syrup Urine Disease 8
C18.452.648.189.535 MELAS Syndrome 17
C18.452.648.189.540 Menkes Kinky Hair Syndrome 12
C18.452.648.189.545 MERRF Syndrome 4
C18.452.648.189.593 Mevalonate Kinase Deficiency 16
C18.452.648.189.640 Oculocerebrorenal Syndrome 9
C18.452.648.189.687 Phenylketonurias 287
C18.452.648.189.725 Pyruvate Carboxylase Deficiency Disease
C18.452.648.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.648.189.813 Refsum Disease 6
C18.452.648.189.844 Refsum Disease, Infantile
C18.452.648.189.875 Tyrosinemias 18
C18.452.648.189.937 Urea Cycle Disorders, Inborn 7
C18.452.648.189.968 Zellweger Syndrome 10

Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria Disease MeSH Browser

Lysine Intolerance Disease MeSH Browser

Saccharopinuria Disease MeSH Browser

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