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Cerebral creatine deficiency syndrome(CCAD)

MedGen UID:
831987
Concept ID:
CN227588
Disease or Syndrome
Synonyms: CCAD; Creatine deficiency syndromes
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related genes: SLC6A8, GATM, GAMT
 
Monarch Initiative: MONDO:0000456
OMIM® Phenotypic series: PS300352
Orphanet: ORPHA79172

Disease characteristics

Excerpted from the GeneReview: Creatine Deficiency Disorders
The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported. [from GeneReviews]
Authors:
Saadet Mercimek-Andrews  |  Gajja S Salomons   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Cerebral creatine deficiency syndrome in Orphanet.

Professional guidelines

PubMed

Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee.
Genet Med 2013 May;15(5):399-407. Epub 2013 Mar 21 doi: 10.1038/gim.2013.32. PMID: 23519317

Recent clinical studies

Etiology

Shen M, Yang G, Chen Z, Yang K, Dong H, Yin C, Cheng Y, Zhang C, Gu F, Yang Y, Tian Y
Clin Chim Acta 2022 Jul 1;532:29-36. Epub 2022 May 16 doi: 10.1016/j.cca.2022.05.006. PMID: 35588794

Diagnosis

Shen M, Yang G, Chen Z, Yang K, Dong H, Yin C, Cheng Y, Zhang C, Gu F, Yang Y, Tian Y
Clin Chim Acta 2022 Jul 1;532:29-36. Epub 2022 May 16 doi: 10.1016/j.cca.2022.05.006. PMID: 35588794
Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A
Sci Rep 2022 Apr 21;12(1):6556. doi: 10.1038/s41598-022-10415-5. PMID: 35449147Free PMC Article
Yoldaş TÇ, Gürbüz BB, Akar HT, Özmert EN, Coşkun T
Turk J Pediatr 2021;63(5):767-779. doi: 10.24953/turkjped.2021.05.005. PMID: 34738359
Brugger M, Brunet T, Wagner M, Orec LE, Schwaibold EMC, Boy N
Gene 2021 Feb 5;768:145260. Epub 2020 Oct 22 doi: 10.1016/j.gene.2020.145260. PMID: 33164824
Salazar MD, Zelt NB, Saldivar R, Kuntz CP, Chen S, Penn WD, Bonneau R, Koehler Leman J, Schlebach JP
Biochemistry 2020 Apr 7;59(13):1367-1377. Epub 2020 Mar 30 doi: 10.1021/acs.biochem.9b00956. PMID: 32207963

Prognosis

Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A
Sci Rep 2022 Apr 21;12(1):6556. doi: 10.1038/s41598-022-10415-5. PMID: 35449147Free PMC Article

Clinical prediction guides

Shen M, Yang G, Chen Z, Yang K, Dong H, Yin C, Cheng Y, Zhang C, Gu F, Yang Y, Tian Y
Clin Chim Acta 2022 Jul 1;532:29-36. Epub 2022 May 16 doi: 10.1016/j.cca.2022.05.006. PMID: 35588794
Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A
Sci Rep 2022 Apr 21;12(1):6556. doi: 10.1038/s41598-022-10415-5. PMID: 35449147Free PMC Article
Salazar MD, Zelt NB, Saldivar R, Kuntz CP, Chen S, Penn WD, Bonneau R, Koehler Leman J, Schlebach JP
Biochemistry 2020 Apr 7;59(13):1367-1377. Epub 2020 Mar 30 doi: 10.1021/acs.biochem.9b00956. PMID: 32207963

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