Management and treatment At present there is no effective treatment for 3-MGA type IV and a leucine-restricted diet appears to be of no benefit. [rarediseases.info.nih.gov]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male. [ncbi.nlm.nih.gov]

Le present article offre une analyse non lineaire du profil de parole d'un enfant de huit ans, qui montre les interactions entre la structure d'un mot et ses segments a mesure que la complexite du mot augmente. [go.gale.com]

• Recurrent Infection

  infections in infancy and early childhood Abnormality of the integument Fair hair Abnormality of the musculoskeletal system Gowers sign Skeletal myopathy Abnormality of the nervous system Gait disturbance Global developmental delay Motor delay Abnormality [ncbi.nlm.nih.gov]

  The main features of Barth syndrome include a weakened and enlarged heart (dilated cardiomyopathy), recurrent infections due to low numbers of white blood cells (neutropenia), skeletal problems, and delayed growth. [en.wikipedia.org]

• Malingering

  [PubMed: 15902555] Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthiery Y, Lenaers G, Bonneau D. [ncbi.nlm.nih.gov]

• Fatigue

  […] the musculoskeletal system Gowers sign Skeletal myopathy Abnormality of the nervous system Gait disturbance Global developmental delay Motor delay Abnormality of the respiratory system Recurrent bronchitis Constitutional symptom Exercise intolerance Fatigue [ncbi.nlm.nih.gov]

• Failure to Thrive

  […] to thrive Growth delay IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

  Clinical description Patients usually present during the first year of life with neurological findings including psychomotor retardation, hypotonia, developmental delay, seizures and progressive spasticity, together with severe failure to thrive. [rarediseases.info.nih.gov]

• Vomiting

  Some of the reported patients also displayed hypoglycaemia, spastic quadriparesis, microcephaly, progressive neurological deficit, seizures, vomiting, atrophy of the basal ganglia, severe hypotonia and hepatomegly. [orpha.net]

• Heart Failure

  Heart failure is a significant cause of morbidity and mortality; risk of arrhythmia and sudden death is increased. Neutropenia is most often associated with mouth ulcers, pneumonia, and sepsis. [ncbi.nlm.nih.gov]

• Muscle Spasm

  […] movements (called dystonia) Muscle spasms and weakness in the arms and legs (called spastic quadriparesis) 3MGA type II (Barth syndrome) signs include: Frequent infections Weak muscles Delayed growth 3MGA type III (Costeff optic atrophy syndrome) signs [babysfirsttest.org]

• Round Face

  face Abnormality of limbs Clubfoot Abnormality of metabolism/homeostasis Intermittent lactic acidemia Abnormality of the cardiovascular system Cardiac arrhythmia Congestive heart failure Endocardial fibroelastosis Hypertrophic cardiomyopathy Increased [ncbi.nlm.nih.gov]

• Psychomotor Retardation

  Clinical description Patients usually present during the first year of life with neurological findings including psychomotor retardation, hypotonia, developmental delay, seizures and progressive spasticity, together with severe failure to thrive. [rarediseases.info.nih.gov]

  Most individuals in this group present early in life with nonspecific neurologic findings including psychomotor retardation and muscle tone abnormalities. Cardiomyopathy is common. [ncbi.nlm.nih.gov]

• Dystonia

  […] characteristic features of 3-methylglutaconic aciduria type I include speech delay, delayed development of both mental and motor skills (psychomotor delay), elevated levels of acid in the blood and tissues (metabolic acidosis), abnormal muscle tone (dystonia [en.wikipedia.org]

  […] methylglutaconic aciduria (3MGA) differ depending on type, but they all begin in utero or at birth. 3MGA type I signs include: Delays in reaching developmental milestones (such as speech or motor skills) Irregular, uncontrolled muscle movements (called dystonia [babysfirsttest.org]

  Microcephaly and progressive neurologic impairment with spastic quadriplegia, seizures, and dystonia have been reported. [Sweetman & Williams 2001, Ijlst et al 2002, Illsinger et al 2004]. TAZ defect (Barth syndrome). [ncbi.nlm.nih.gov]

• Spastic Quadriplegia

  Microcephaly and progressive neurologic impairment with spastic quadriplegia, seizures, and dystonia have been reported. [Sweetman & Williams 2001, Ijlst et al 2002, Illsinger et al 2004]. TAZ defect (Barth syndrome). [ncbi.nlm.nih.gov]

• Nystagmus

  Optic atrophy is associated with progressive, decreased visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. Most individuals have chorea, often severe enough to restrict ambulation. [ncbi.nlm.nih.gov]

• Involuntary Movements

  Sometimes other nervous system problems occur, such as an inability to maintain posture, poor muscle tone, the development of certain involuntary movements (extrapyramidal dysfunction), and a general decrease in brain function (cognitive deficit). [en.wikipedia.org]

• Language Delays

  The clinical features include nonspecific speech and language delay without metabolic derangement in some individuals and with hypoglycemia and metabolic acidosis in others (Table 3). Failure to thrive and psychomotor retardation are common. [ncbi.nlm.nih.gov]

Management and treatment Treatment is largely symptomatic but dietary management with a modest leucine restriction and supplementation with L-carnitine may be beneficial in some cases. [orpha.net]

If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment. [babysfirsttest.org]

Current evidence for treatment with nusinersen for spinal muscular atrophy: a systematic review. Acta Neurol Belg. 2019;119(4):523-33. DOI: 10.1007/s13760-019-01199-z [ Links ] 39. [scielo.org.pe]

Management and treatment At present there is no effective treatment for 3-MGA type IV and a leucine-restricted diet appears to be of no benefit. [rarediseases.info.nih.gov]

Treatment[edit] There is no known treatment or cure. Epidemiology[edit] 3-Methylglutaconic aciduria seems to be most prevalent amongst the Jewish population of Iraq. [en.wikipedia.org]

Prognosis The prognosis depends on the clinical phenotype but the neurological complications can be severe with a potentially fatal disease course. Last updated: 3/1/2007 [rarediseases.info.nih.gov]

Etiology The syndrome is caused by mutations in the AUH gene (chromosome 9) encoding 3-methylglutaconyl-CoA hydratase, an enzyme involved in leucine degradation. [orpha.net]

Etiology The aetiology remains unknown: unlike patients with 3-MGA type I, individuals with 3MGA type IV display normal 3-methylglutaconyl-CoA hydratase activity in cultured fibroblasts. [rarediseases.info.nih.gov]

Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. Biochem Genet. 2018; 56(1-2):7-21. DOI: 10.1007/s10528-017-9825-6 [ Links ] 51. Blackburn PR, Gass JM, Vairo FP e, Farnham KM, Atwal HK, Macklin S, et al. [scielo.org.pe]

Epidemiology of pertussis and haemophilus influenzae type b disease in Canada with exclusive use of a diphtheria-tetanus-acellular pertussis- inactivated poliovirus-haemophilus influenzae type b pediatric combination vaccine and an adolescent-adult tetanus-diphtheria-acellular [wordscope.com]

Summary Epidemiology The disorder is very rare with less than 20 cases reported in the literature. [orpha.net]

Epidemiology The prevalence of this disorder is unknown. [rarediseases.info.nih.gov]

Epidemiology[edit] 3-Methylglutaconic aciduria seems to be most prevalent amongst the Jewish population of Iraq. However, a high concentration of one type is found in the Saguenay-Lac-Saint-Jean region of Canada. [en.wikipedia.org]

Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015;66:471-86. DOI: 10.1146/annurev-med-122313-085916 [ Links ] 64. Hagin D, Burroughs L, Torgerson TR. [scielo.org.pe]

Canada with exclusive use of a diphtheria-tetanus-acellular pertussis- inactivated poliovirus-haemophilus influenzae type b pediatric combination vaccine and an adolescent-adult tetanus-diphtheria-acellular pertussis vaccine: Implications for disease prevention [wordscope.com]

The question of whether initiation of CoQ10 supplements early in the course of disease would prevent some neurologic damage remains to be answered. [ncbi.nlm.nih.gov]