In this case, it was seen that an elder sibling presented with lamellar cataract whereas the younger sibling presented with total cataract, concluding that though cataract is a common entity in Sengers syndrome, the type may vary. [ijo.in]

They presented with a combination of cardiomyopathy, cataract and skeletal muscle weakness. [content.iospress.com]

CCM may present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms. [orpha.net]

Schmidt Biology 1986 The present chapter outlines the diversity of blue light (B) and near-UV effects and uses the term ‘B/UV photoreceptors’ to describe some physiological reactions of plants and fungi. [semanticscholar.org]

[…] and is required for efficient mitochondrial one-carbon metabolism. 61 Jackson TD...Stojanovski D 33476211 2021 23 Report of an Indian Family with Sengers Syndrome. 61 Aggarwal B...Gupta N 32852732 2021 24 A case report of children of the same family presenting [malacards.org]

• Developmental Delay

  Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. J Inherit Metab Dis. 2006 Aug;29(4):546-50. [disorders.eyes.arizona.edu]

  The third child was detected to have cataracts at birth and subsequent developmental delay with failure to thrive. He died undiagnosed at 18 months of age. [content.iospress.com]

  Parental consanguinity: a risk factor for developmental delay in Pakistani children.J Pak Med Assoc 2001; 51(12): 418–421. PubMed CAS Google Scholar 6. John MC, Kusick VA. Mendelian inheritance in man 6th edn. [link.springer.com]

  delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. 57 Di Rosa G...Dionisi-Vici C 16736096 2006 14 Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and [malacards.org]

  Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3-methylglutaconic aciduria. J. Inherit. Metab. Dis. 2006;29:546–550. [PubMed] [Google Scholar] 8. [ncbi.nlm.nih.gov]

• Fatigue

  Other features include easy fatigue, muscular hypotonia, and delayed motor development. Significant arrhythmia may occur in later stages of disease. No treatment currently available, genetic counselling necessary. [accessanesthesiology.mhmedical.com]

  Easy fatigability MedGen UID: 373253 •Concept ID: C1837098 • Finding Increased susceptibility to fatigue. [ncbi.nlm.nih.gov]

  Common symptoms include fatigue, muscle weakness, and floppiness (hypotonia). It is often seen following exercise that you develop lactic acidosis, which is a medical condition that requires prompt treatment. [en.wikipedia.org]

• Heart Disease

  Due to the widespread impact of the disease, it is most likely a team effort. Both heart disease and metabolic lactic acidosis are life-threatening and must be treated promptly. [en.wikipedia.org]

• Liver Dysfunction

  dysfunction. 61 Beck DB...Leon E 29682452 2018 31 Comment on 'Sustained intraoperative bradycardia revealing Sengers syndrome'. 61 Solanki SL...Parab SY 29416161 2018 32 Sustained intraoperative bradycardia revealing Sengers syndrome. 61 Khandelwal A [malacards.org]

  Extending the phenotypic spectrum of Sengers syndrome: congenital lactic acidosis with synthetic liver dysfunction. Transl Sci Rare Dis. (2018) 3:45–8. doi: 10.3233/TRD-180020 PubMed Abstract | CrossRef Full Text | Google Scholar 16. [frontiersin.org]

• Visual Impairment

  In one series only one eye recovered to 20/40 but the average postoperative acuity was in the range of 20/200 and virtually all students require special education in schools for the visually impaired. [disorders.eyes.arizona.edu]

  If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. [ncbi.nlm.nih.gov]

• Visual Impairment

  In one series only one eye recovered to 20/40 but the average postoperative acuity was in the range of 20/200 and virtually all students require special education in schools for the visually impaired. [disorders.eyes.arizona.edu]

  If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. [ncbi.nlm.nih.gov]

• Myopathy

  1 Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. 61 57 6 22284826 2012 2 Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like [malacards.org]

  Congenital contract and mitochondrial myopathy of skeletal and heart muscle associate with lactic acidosis after exercise.J Paediatr 1975; 86: 873–880. Article CAS Google Scholar 2. [link.springer.com]

  Differential diagnosis Differential diagnoses include mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency, isolated ATP synthase deficiency and Barth syndrome (see these terms). [rarediseases.info.nih.gov]

• Muscle Hypotonia

  The newborn had no obvious muscle hypotonia. At age 2 months, bilateral cataracts were noted and cataract phacoemulsification was performed at 3 months of age. [frontiersin.org]

• Excitement

  Interactions of Flavins with Cytochrome C and Oxygen in Excited Artificial Systems.- Artificial Flavin/Membrane Systems; a Possible Model for Physiological Blue Light Action.- Effects of UV and Blue Light on the Bipotential Changes in Etiolated Hypocotyl [barnesandnoble.com]

  Our identification of AGK as a bona fide subunit of TIM22 provides an exciting and unexpected link between mitochondrial protein import and Sengers syndrome. [pubmed.ncbi.nlm.nih.gov]

Genetic testing may reveal autosomal recessive mutations in AGK and SLC25A4 and it should be considered early in diagnostic workup. [rarediseases.info.nih.gov]

• Fusarium

  Photokilling and Protective Mechanisms in Fusarium aquaeductuum.- Dose Response and Related Aspects of Carotenogenesis in Neurospora crassa.- Carbon Metabolism and Respiration.- Effects of Blue Light on Respiration and Non-Photosynthetic CO2 Fixation [barnesandnoble.com]

• Muscle Biopsy showing Ragged-Red Fibers

  Skeletal muscle biopsies show ragged-red fibers with combined deficiencies of mitochondrial complexes I, III, and IV along with severe depletion of mtDNA. Increased urine levels of 3-methylglutaconic have been reported. [disorders.eyes.arizona.edu]

Differential diagnosis[edit] Isolated ATP synthase deficiency Barth syndrome TMEM70 deficiency Treatment[edit] Surgery for cataracts may be needed. Medical treatment for cardiac failure will be required. Treatment is otherwise supportive. [en.wikipedia.org]

Prognosis[edit] About half the patients die within the first year of life. Because of its rarity, the prognosis for the chronic form is not well established but survival into adulthood has been reported. [en.wikipedia.org]

Etiology In the majority of CCM patients mutations (nonsense, frame-shift, start codon or splice site) in the AGKgene have been identified. [rarediseases.info.nih.gov]

Etiology In the majority of CCM patients mutations (nonsense, frame-shift, start codon or splice site) in the AGK gene have been identified. [orpha.net]

Epidemiology Prevalence of CCM is unknown; approximately 40 cases have been reported to date in disparate locations throughout the world. [rarediseases.info.nih.gov]

Summary Epidemiology Prevalence of CCM is unknown; approximately 40 cases have been reported to date in disparate locations throughout the world. [orpha.net]

Pathophysiology Mutation of the Acylglycerol Kinase (AGK) gene on 7q34. [accessanesthesiology.mhmedical.com]

Although the role of AGK mutations in cataractogenesis is unclear, some authors have raised the hypothesis that an impairment of lenticular lipid composition may be of pathophysiological significance in the etiology [18],[19]. [ojrd.biomedcentral.com]