Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.

Journal of inherited metabolic disease - 1 Feb 2007

Morris A A M, Appleton R E, Power B, Isherwood D M, Abernethy L J, Taylor R W, Turnbull D M, Verhoeven N M, Salomons G S, Jakobs C

Abstract excerpt

Guanidinoacetate methyltransferase (GAMT) deficiency is a rare disorder of creatine synthesis. We report a patient who presented at 10 months of age with hypotonia and global developmental delay. Subsequently, she developed seizures and choreoathetosis. Magnetic resonance imaging showed high signal bilaterally in the globus pallidus on T2-weighted images. Mitochondrial respiratory chain studies revealed low...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain
Share to Brain Diseases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Fibroblasts

Share to Heterozygote

Share to Infant

Share to Magnetic Resonance Imaging

Share to Mitochondria

Source

Identifiers

PMID: 17171576
DOI: 10.1007/s10545-006-0478-2

Genes

GAMT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.PMID 17171576Read ↗

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.Semantic proximity Read ↗

Guanidinoacetate methyltransferase (GAMT) deficiency in two Tunisian siblings: clinical and biochemical features.Semantic proximity Read ↗

Review: Human guanidinoacetate n-methyl transferase (GAMT) deficiency: A treatable inborn error of metabolism.Semantic proximity Read ↗

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.Semantic proximity Read ↗

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.Semantic proximity Read ↗

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.Semantic proximity Read ↗

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.Semantic proximity Read ↗

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.Semantic proximity Read ↗

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.Semantic proximity Read ↗

Characterization of seven novel mutations in seven patients with GAMT deficiency.Semantic proximity Read ↗

Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency.Semantic proximity Read ↗

Laboratory diagnosis of defects of creatine biosynthesis and transport.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.