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Elevated urinary creatine/creatinine ratio

MedGen UID:
1054304
Concept ID:
CN376636
Finding
Synonym: Increased urine Cr/Crn ratio
 
HPO: HP:6000127

Definition

The ratio of creatine to creatinine concentration in the urine is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urinary creatine/creatinine ratio

Conditions with this feature

Creatine transporter deficiency
MedGen UID:
337451
Concept ID:
C1845862
Disease or Syndrome
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.

Recent clinical studies

Etiology

Stockler-Ipsiroglu S, van Karnebeek CD
Semin Neurol 2014 Jul;34(3):350-6. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386772. PMID: 25192512
Hegreberg GA, Hamilton MJ, Padgett GA
Fed Proc 1976 Apr;35(5):1218-24. PMID: 1261713

Diagnosis

Stockler-Ipsiroglu S, van Karnebeek CD
Semin Neurol 2014 Jul;34(3):350-6. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386772. PMID: 25192512

Prognosis

Hegreberg GA, Hamilton MJ, Padgett GA
Fed Proc 1976 Apr;35(5):1218-24. PMID: 1261713

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