Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation

Autor: Tadej Battelino, Magdalena Avbelj Stefanija, Ajda Mezek, Urh Groselj, Ana Drole Torkar, Neli Bizjak, Mojca Zerjav Tansek, Barbka Repic Lampret
Jazyk: angličtina
Rok vydání: 2020
Předmět:
medicine.medical_specialty
MRI
Magnetic resonance imaging
IEM
inborn errors of metabolism
udc:616-053.2
LH
luteinizing hormone
3-MGA-I
3-methylglutaconic aciduria type I
Case Report
Gene mutation
C5-OH
3-hydroxyisovaleryl-carnitine
Organic aciduria
GnRH
Gonadotropin-releasing hormone
ToL
The Tower of London test
precocious puberty
NBS
newborn screening
Endocrinology
Precocious puberty
Internal medicine
Genetics
medicine
3-MGH
3-methylglutaconyl-CoA hydratase
Molecular Biology
UCHL
University Children's Hospital Ljubljana
GnRH agonist
lcsh:QH301-705.5
Dystonia
lcsh:R5-920
Psychomotor retardation
business.industry
3-Methylglutaconic Aciduria Type 1
3-methylglutaconic aciduria type 1
triptorelin
Triptorelin
3-MG
3-methylglutaric acid
LC-MS/MS
Tandem mass spectrometry
medicine.disease
3-HIVA
3-hydroxyisovaleric acid
lcsh:Biology (General)
AUH gene
Speech delay
3-MGA-I
medicine.symptom
business
lcsh:Medicine (General)
medicine.drug
Zdroj: Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100691-(2020)
Molecular Genetics and Metabolism Reports
Molecular genetics and metabolism reports, vol. 25, 100691, 2020.
ISSN: 2214-4269
Popis: 3-methylglutaconic aciduria type 1 (3-MGA-I) (MIM ID #250950) is an ultra-rare, autosomal recessive organic aciduria, resulting from mutated AUH gene, leading to the deficient 3-methylglutaconyl-CoA hydratase (3-MGH). Only around 40 cases are previously reported, caused by a spectrum of 10 mutations. The clinical spectrum of 3-MGA-I in children is heterogeneous, varying from asymptomatic individuals to mild neurological impairment, speech delay, quadriplegia, dystonia, choreoathetoid movements, severe encephalopathy, psychomotor retardation, basal ganglia involvement. Early dietary treatment with leucine restriction and carnitine supplementation may be effective in improving neurological state in pediatric patients with 3-MGA-I. We presented a girl with 3-MGA-I due to novel AUH gene mutation (homozygous variant c.330 + 5G > A) and confirmed by almost undetectable 3-MGH-enzyme activity, who initially presented with central precocious puberty at an early age of 4.5 years. Precocious puberty might be associated with the 3-MGA-I, as is reported previously in some other metabolic disorders that result in pathologic accumulation of metabolites or toxic brain damage. Therapy with GnRH agonist triptorelin effectively arrested pubertal development.
Highlights • Girl with 3-MGA-I presented with central precocious puberty. • Novel AUH gene mutation and almost undetectable 3-MGH-enzyme activity were detected. • GnRH agonist triptorelin effectively arrested pubertal development. • Precocious puberty is reported in some other metabolic disorders.
Databáze: OpenAIRE
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