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]

Guidelines on submission of a dossier for safety evaluation by the EFSA of active or intelligent substances present in active and intelligent materials and articles intended to come into contact with food (Lignes directrices relatives à la présentation [wordscope.com]

[PubMed: 23355087] Chapter Notes Author History Yair Anikster, MD, PhD (2006-present) William A Gahl, MD, PhD; National Institutes of Health (2006-2013) Meral Gunay-Aygun, MD (2006-present) Marian Huizing, PhD (2013-present) Revision History 19 December [ncbi.nlm.nih.gov]

In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. [en.wikipedia.org]

• Failure to Thrive

  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]

  Failure to thrive and psychomotor retardation are common. 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]. [ncbi.nlm.nih.gov]

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]

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]

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]

[…] of Manifestations Treatment is supportive. [ncbi.nlm.nih.gov]

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 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]

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]

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]

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

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

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]

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]