Guanidinoacetate methyltransferase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY CREATINE DEFICIENCY SYNDROME DUE TO GAMT DEFICIENCY CCDS2 gamt deficiency Cerebral creatine deficiency |
| Number of Symptoms | 21 |
| OrphanetNr: | 382 |
| OMIM Id: |
612736
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| ICD-10: |
E72.8 |
| UMLs: |
C0574080 |
| MeSH: |
C537622 |
| MedDRA: |
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| Snomed: |
124239003 |
Prevalence, inheritance and age of onset:
| Prevalence: | 52 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of creatine biosynthesis
-Rare genetic disease -Rare neurologic disease Neurometabolic disease -Rare genetic disease -Rare neurologic disease Syndromic neurometabolic disease with non-X-linked intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0001276) | Hypertonia | 317 / 7739 | ||||
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(HPO:0007153) | Progressive extrapyramidal movement disorder | 1 / 7739 | ||||
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(HPO:0001336) | Myoclonus | 115 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0000750) | Delayed speech and language development | 197 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(OMIM) | Intractable seizures | 12 / 7739 | ||||
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(OMIM) | Absent or limited speech development | 1 / 7739 | ||||
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(OMIM) | Accumulation of guanidinoacetate in brain | 1 / 7739 | ||||
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(OMIM) | Low CSF creatine | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Developmental delay or regression | 1 / 7739 | ||||
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(OMIM) | Low CSF creatinine | 1 / 7739 | ||||
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(OMIM) | Guanidinoacetate methyltransferase (GAMT) deficiency | 1 / 7739 | ||||
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(OMIM) | Increased muscle tone in lower limbs | 1 / 7739 | ||||
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(OMIM) | Deficiency of creatine phosphate in brain | 1 / 7739 | ||||
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(OMIM) | Extremely low creatine excretion | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Guanidinoacetate methyltransferase deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid ... |
| Diagnosis OMIM |
Schulze et al. (1997) noted that the finding of low CSF creatine and creatinine constitutes a reliable diagnostic method for GAMT deficiency. Magnetic resonance spectroscopy of brain is diagnostic in that it reveals creatine depletion and guanidinoacetate phosphate ... |
| Clinical Description OMIM |
Stockler et al. (1994) reported a 22-month-old male infant with muscular hypotonia, progressive extrapyramidal movement disorder, an extremely low excretion of creatine, deficiency of creatine and creatine phosphate, and simultaneous accumulation of guanidinoacetate in brain, as detected by ... |
| Molecular genetics OMIM |
In 2 patients with GAMT deficiency, Stockler et al. (1996) identified mutations in the GAMT gene; one patient was homozygous and the other was compound heterozygous (see 601240.0001 and 601240.0002). In 3 family members and an ... |