Presentation
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]
[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]
Entire Body System
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Cerebral Palsy
Cerebral palsy. As the neurologic symptoms of OPA3-related methylglutaconic aciduria are relatively slow to progress, especially if the optic atrophy is not recognized, the disorder may be misdiagnosed as cerebral palsy [Straussberg et al 1998]. [ncbi.nlm.nih.gov]
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Developmental Delay
Some children with 3MGA have developmental delays. If you think that your baby is not meeting their developmental milestones, ask your child's health care provider about the next steps in accessing a developmental evaluation and care. [babysfirsttest.org]
Gastrointestinal
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Failure to Thrive
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]
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Failure to Thrive
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]
Musculoskeletal
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Myopathy
The mode of inheritance and the lack of skeletal myopathy and neutropenia distinguish DCMA syndrome from Barth syndrome. [ncbi.nlm.nih.gov]
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Muscle Spasm
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 include: Vision loss Trouble with [babysfirsttest.org]
Psychiatrical
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Psychomotor Retardation
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]
Neurologic
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Seizure
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]
Seizures are not typical in OPA3-related 3-methylglutaconic aciduria. Partial seizures were reported in one individual. Individuals with OPA3-related 3-methylglutaconic aciduria have no cardiac or structural brain abnormalities. [ncbi.nlm.nih.gov]
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Ataxia
Although most develop spastic paraparesis, mild ataxia, and occasional mild cognitive deficit in their second decade, the course of the disease is relatively stable. [ncbi.nlm.nih.gov]
Type IV has signs similar to types I, II, and III. 3MGA type V (dilated cardiomyopathy with ataxia) signs include: Difficulty coordinating voluntary muscle movements (called ataxia) Delayed growth Undescended testes or an opening in the urethra on the [babysfirsttest.org]
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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]
Treatment
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]
Etiology
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
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]
Prevention
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]