Glutaryl-CoA dehydrogenase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: GLUTARIC ACIDURIA I
GA I
GCDHD
GA1
Glutaric aciduria type 1
Glutaryl-coenzyme A dehydrogenase deficiency
GLUTARYL-CoA DEHYDROGENASE DEFICIENCY
Glutaric acidemia type 1
Number of Symptoms 59
OrphanetNr: 25
OMIM Id: 231670
ICD-10: E72.3
UMLs: C0268595
MeSH: C536833
MedDRA:
Snomed: 360416003
76175005

Prevalence, inheritance and age of onset:

Prevalence: 1 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cerebral organic aciduria
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003150) Glutaric aciduria 7 / 7739
2
 (HPO:0002919) Ketonuria 18 / 7739
3
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
4
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
5
 (HPO:0001999) Abnormal facial shape Frequent [Orphanet] 169 / 7739
6
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
7
 (HPO:0000496) Abnormality of eye movement Occasional [Orphanet] 79 / 7739
8
 (HPO:0008046) Abnormality of the retinal vasculature Occasional [Orphanet] 41 / 7739
9
 (HPO:0002141) Gait imbalance Occasional [Orphanet] 55 / 7739
10
 (HPO:0002179) Opisthotonus 35 / 7739
11
 (HPO:0004372) Reduced consciousness/confusion Occasional [Orphanet] 73 / 7739
12
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
13
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
14
 (HPO:0002071) Abnormality of extrapyramidal motor function Frequent [Orphanet] 76 / 7739
15
 (HPO:0001332) Dystonia Very frequent [Orphanet] 197 / 7739
16
 (HPO:0001266) Choreoathetosis 57 / 7739
17
 (HPO:0006873) Symmetrical progressive peripheral demyelination 1 / 7739
18
 (HPO:0007105) Infantile encephalopathy 5 / 7739
19
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
20
 (HPO:0004305) Involuntary movements Frequent [Orphanet] 50 / 7739
21
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
22
 (HPO:0002383) Encephalitis Very frequent [Orphanet] 41 / 7739
23
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
24
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
25
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
26
 (HPO:0001250) Seizures Occasional [Orphanet] rare [HPO:skoehler] 1245 / 7739
27
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
28
 (HPO:0001264) Spastic diplegia 24 / 7739
29
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
30
 (HPO:0012639) Abnormality of nervous system morphology Frequent [Orphanet] 25 / 7739
31
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
32
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
33
 (HPO:0002063) Rigidity 92 / 7739
34
 (HPO:0001367) Abnormal joint morphology Frequent [Orphanet] 53 / 7739
35
 (HPO:0002240) Hepatomegaly 467 / 7739
36
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
37
 (HPO:0001508) Failure to thrive 454 / 7739
38
 (HPO:0002170) Intracranial hemorrhage Occasional [Orphanet] 40 / 7739
39
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
40
 (HPO:0002047) Malignant hyperthermia Occasional [Orphanet] 20 / 7739
41
 (HPO:0001946) Ketosis 17 / 7739
42
 (HPO:0003530) Glutaric acidemia 2 / 7739
43
 (HPO:0001942) Metabolic acidosis 81 / 7739
44
 (HPO:0001943) Hypoglycemia 131 / 7739
45
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
46
 (HPO:0010547) Muscle flaccidity 466 / 7739
47
 (HPO:0001324) Muscle weakness 859 / 7739
48
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
49
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
50
 (OMIM) Hypodensity of lenticular nuclei 1 / 7739
51
 (OMIM) Hypodensity of caudate 1 / 7739
52
 (OMIM) Symmetrical progressive demyelination 1 / 7739
53
 (HPO:0012448) Delayed myelination 51 / 7739
54
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
55
 (OMIM) Widening of cortical sulci 1 / 7739
56
 (OMIM) Frontotemporal atrophy 3 / 7739
57
 (OMIM) Striatal necrosis 1 / 7739
58
 (OMIM) Glutaryl-CoA dehydrogenase deficiency 1 / 7739
59
 (HPO:0006956) Dilation of lateral ventricles 13 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Glutaric acidemia I is an autosomal recessive metabolic disorder characterized by gliosis and neuronal loss in the basal ganglia and a progressive movement disorder that usually begins during the first year of life (Goodman et al., 1995). ...
Diagnosis OMIM Kyllerman et al. (1994) noted that glutaric aciduria may go undetected in patients with cerebral palsy and mental retardation. In patients suspected of having the disorder, repeated examinations of organic acids in the urine and enzyme assay may ...
Clinical Description OMIM Goodman et al. (1974) described glutaric aciduria and acidemia in a brother and sister with a neurodegenerative disorder beginning at about 6 months of age and characterized by opisthotonos, dystonia, and athetoid posturing. The glutaric aciduria was increased ...
Molecular genetics OMIM In a Navajo child with glutaric acidemia type I, Biery and Goodman (1992) and Goodman et al. (1995) identified homozygosity for a mutation in the GCDH gene (608801.0001).

Among 64 unrelated patients with glutaric acidemia type ...
Population genetics OMIM Morton et al. (1989, 1991) described type I glutaric aciduria in 14 children from the Old Order Amish community in Lancaster County, Pennsylvania. The authors estimated a 10% carrier frequency for this disorder among the Lancaster County Old ...