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  • Dural Arteriovenous Fistula Wikipedia
    .; Tomsick, Thomas A.; Tew, John M. (2009-05-28). "Management of tentorial dural arteriovenous malformations: transarterial embolization combined with stereotactic radiation or surgery".
    CERNA3, PCYT1A, VEGFA, NDC1, TSPAN2, COIL, TGFBR2, PTEN, ACVRL1, CD38, SERPINE1, NFE2L2, MMP2, GABPA, F5, ENG, SERPINB2
    • Dural Arteriovenous Fistulas Mayo_clinic
      Overview Dural arteriovenous fistulas (dAVFs) are abnormal connections between an artery and a vein in the tough covering over the brain or spinal cord (dura mater). In this rare condition, abnormal passageways between arteries and veins (arteriovenous fistulas) may occur in the brain, spinal cord or other areas of your body. Dural AVF s tend to occur later in life (50 to 60 years of age), and they're not typically passed on genetically — children aren't more likely to develop a dAVF simply because their parent has. Although some dAVF s stem from known causes, it's thought that dAVF s involving large brain veins usually form due to narrowing or blockage of one of the brain's venous sinuses, which normally route circulated blood from the brain back to the heart. Treatment for dAVF usually involves an endovascular procedure or stereotactic radiosurgery to block the blood flow to the dAVF .
  • Pervasive Developmental Disorder Not Otherwise Specified Wikipedia
    Archived from the original on 2007-06-07 . Retrieved 2007-06-28 . ^ Bergman, Joel (Oct 29, 2019).
  • Avian Influenza In Cats Wikipedia
    "Cross-clade immunity in cats vaccinated with a canarypox-vectored avian influenza vaccine". Vaccine . 28 (31): 4970–4976. doi : 10.1016/j.vaccine.2010.05.028 .
  • Ring Chromosome Wikipedia
    Disorders arising from the formation of a ring chromosome include: Chromosome Typical features Ring chromosome 1 Mental retardation, microcephaly, facial abnormalities [6] Ring chromosome 2 Small stature [7] [8] Ring chromosome 3 [9] Ring chromosome 4 Craniofacial abnormalities [10] Ring chromosome 5 [11] Ring chromosome 6 Microcephaly, facial abnormalities, hand abnormalities [12] Ring chromosome 7 Craniofacial abnormalities, speech deficits [13] Ring chromosome 8 Craniofacial abnormalities, hydronephrosis, hand abnormalities [14] Ring chromosome 9 Delayed growth, abnormal facial features, low muscle tone [15] Ring chromosome 10 Mental retardation, delayed growth, facial dysmorphia, reproductive abnormalities [16] Ring chromosome 11 [17] Ring chromosome 12 Delayed growth, abnormal facial features, microcephaly [18] [19] Ring chromosome 13 Microcephaly, delayed growth, reproductive abnormalities [20] Ring chromosome 14 Epilepsy, mental retardation [21] Ring chromosome 15 Growth delay, mental retardation, microcephaly, speech delay [22] Ring chromosome 16 Mental retardation, microcephaly, growth delay, facial abnormalities [23] [24] Ring chromosome 17 [25] Ring chromosome 18 Mental retardation, growth delay, facial abnormalities [26] Ring chromosome 19 [27] Ring chromosome 20 Epilepsy, mental retardation, abnormal facial features, growth delay [28] Ring chromosome 21 Short stature, microcephaly, reproductive abnormalities [29] Ring chromosome 22 Mental retardation, hypotonia, autistic-like behavior [30] Ring chromosome X Turner syndrome Ring chromosome Y [31] See also [ edit ] Chromosome abnormalities References [ edit ] ^ Morgan, LV (Mar 1926).
  • Glomerulocystic Kidney Disease Wikipedia
    ., Rybicki, F. et al. Abdom Imaging (2003) 28: 889. https://doi.org/10.1007/s00261-003-0024-z ^ Lundquist, A.
    UMOD, HNF1B, MUC1, SEC61A1, COL4A3, COL4A4, GLI2, KCNJ1, PKD2, TAZ, GLIS3
  • Branch Retinal Vein Occlusion Wikipedia
    Archives of Ophthalmology . 127 (9): 1115–28. doi : 10.1001/archophthalmol.2009.233 .
  • Fear Of Flying Wikipedia
    Journal of Anxiety Disorders . 42 : 113–28. doi : 10.1016/j.janxdis.2016.07.003 .
  • Birth Injury Wikipedia
    Retrieved 13 December 2017 . ^ James, Andrew (28 October 2009). "Brain and Behaviour Problems" .
    • Birth Trauma (Physical) Wikipedia
      This article may require cleanup to meet Wikipedia's quality standards . The specific problem is: Writing style needs fixing Please help improve this article if you can. ( October 2012 ) ( Learn how and when to remove this template message ) Brain delivery trauma Position of the child is important for normal birthing procedure. Head-first birth is preferred. Specialty Obstetrics , pediatrics Birth trauma refers to damage of the tissues and organs of a newly delivered child, often as a result of physical pressure or trauma during childbirth . The term also encompasses the long term consequences, often of cognitive nature, of damage to the brain or cranium. [1] Medical study of birth trauma dates to the 16th century, and the morphological consequences of mishandled delivery are described in Renaissance-era medical literature. Birth injury occupies a unique area of concern and study in the medical canon.
  • Apraxia Of Lid Opening Wikipedia
    Treatment [ edit ] Botulinum toxin injected into the pretarsal orbicularis oculi muscle has been shown to be beneficial in some cases associated with orbicularis oculi contraction or blepharospasm. [23] [24] Levodopa has been reported to improve symptoms in patients with Parkinson’s disease and progressive supranuclear palsy. [25] [26] [27] There have also been reports of improvement with trihexyphenidyl [28] and valproic acid . [29] Surgical treatment may be considered in severe cases or cases that occur with blepharospasm. [30] [31] Prognosis [ edit ] A person with isolated ALO has an excellent prognosis .
    • Apraxia Of Eyelid Opening Omim
      Defazio et al. (1998) described 10 new patients with 'so-called apraxia of eyelid opening.' They concluded that the term 'apraxia' may not be the correct descriptive term even when the eyelid disturbance occurs without any other central nervous system disease. Familial clustering of the isolated finding in 1 patient was consistent with a genetic contribution: 2 brothers, their father, and 2 paternal aunts were thought to be affected. Combining their 10 patients with 11 previously reported cases of isolated so-called apraxia of eyelid opening, Defazio et al. (1998) found that the peak age at onset was the sixth decade and that there was a female preponderance of 2 to 1. The characteristic inability to initiate lid elevation was frequently associated with failure to sustain lid elevation, thus suggesting that eyelid motor control may be abnormal.
  • Skeletal Eroding Band Wikipedia
    "A mechanism of transmission and factors affecting coral susceptibility to Halofolliculina sp. infection" (PDF) . Coral Reefs . 28 (1): 67–77. doi : 10.1007/s00338-008-0419-y .
  • Recurrent Pyogenic Cholangitis Wikipedia
    "Gallstones: ethnological studies". Digestion . 1 (4): 219–28. doi : 10.1159/000196857 . PMID 5696243 . ^ Nakayama, F; Soloway, RD; Nakama, T; Miyazaki, K; Ichimiya, H; Sheen, PC; Ker, CG; Ong, GB; Choi, TK; Boey, J (January 1986).
  • Abortion In France Wikipedia
    Abortion Legislation in Europe (PDF) (Report). pp. 28–29 . Retrieved 29 January 2017 . ^ a b c "France" .
  • Hypomagnesemia 1, Intestinal Omim
    They stated that since the first report in 1965, the diagnosis had been made in 30 children (not including their own cases) from 28 families. In 6 families, consanguinity was found.
    TRPM6, TRPM7, ACTN4, VEGFD, PKD2, CLDN16
    • Primary Hypomagnesemia With Secondary Hypocalcemia Gard
      Familial hypomagnesemia with secondary hypocalcemia is a disease characterized by very low magnesium levels in the blood. The disease begins during the first months of life with generalized and recurrent seizures which do not improve with usual treatment. Additional features include tetany ( spasms of the hands and feet, cramps, spasm of the voice box (larynx), and overactive neurological reflexes), failure to thrive, restlessness, tremors, muscle spasms, and bluish skin around the mouth (perioral cyanosis). Abnormal heart rhythm ( cardiac arrhythmia ) may be observed. The low levels of magnesium result in low levels of parathyroid hormone (PTH) and in low levels of calcium in the bloods ( hypocalcemia ). It is caused by mutations in the TRPM6 gene. Inheritance is autosomal recessive.
    • Hypomagnesemia With Secondary Hypocalcemia Wikipedia
      Hypomagnesemia with secondary hypocalcemia Specialty Endocrinology Hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive genetic disorder affecting intestinal magnesium absorption. Decreased intestinal magnesium reabsorption and the resulting decrease in serum magnesium levels is believed to cause lowered parathyroid hormone (PTH) output by the parathyroid gland . This results in decreased PTH and decreased serum calcium levels (hypocalcemia). This manifests in convulsions and spasms in early infancy which, if left untreated, can lead to mental retardation or death. HSH is caused by mutations in the TRPM6 gene. Contents 1 Pathophysiology 2 Diagnosis 3 Treatment 4 History 5 See also 6 References 7 Footnotes 8 External links Pathophysiology [ edit ] HSH is caused by decreased intestinal magnesium reabsorption through TRPM6 channels.
    • Hypomagnesemia With Secondary Hypocalcemia Medlineplus
      Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia). Hypomagnesemia impairs the function of the parathyroid glands, which are small hormone-producing glands located in the neck. Normally, the parathyroid glands release a hormone that increases blood calcium levels when they are low. Magnesium is required for the production and release of parathyroid hormone, so when magnesium is too low, insufficient parathyroid hormone is produced and blood calcium levels are also reduced (hypocalcemia).
    • Primary Hypomagnesemia With Secondary Hypocalcemia Orphanet
      Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. Epidemiology To date, approximately 100 cases have been described in the literature. Both sexes are equally affected. Clinical description Disease onset is often in the neonatal period and always before the end of the first year of life. The predominant symptom at initial presentation is generalized and recurrent seizures which are refractory to the conventional convulsive therapy.
  • Choriocarcinoma Wikipedia
    World Journal of Clinical Oncology . 10 (2): 28–37. doi : 10.5306/wjco.v10.i2.28 .
    TP53, KIT, CYP19A1, FGFR3, STK11, BCL10, HLA-G, EGF, CD274, LGALS1, ERV3-1, EGFR, CGB5, ABCG2, LIF, ERVW-1, CGB8, CSH1, CSH2, STAT3, HSD17B7, CGB3, VEGFA, POU5F1, ETS2, CTNNB1, DHRS11, CGA, TFPI2, HSD17B13, TNF, AKT1, HLA-A, FLT1, HSD11B2, MDM2, APRT, ALPG, HSD17B1, IFNG, HPSE, MFAP1, IGF2, MMP2, LEP, PIK3CD, LNPEP, SMAD3, PIK3CG, CSF1R, USP7, PIK3CB, PIK3CA, HLCS, FBXW8, EPHB2, HIF1A, ESR1, CYCS, GH2, MAPK1, PGF, CDKN1C, ADM, TEAD1, POU5F1P3, ALPP, POU5F1P4, AFP, SLC5A5, PTEN, MALAT1, MMP9, B2M, BCL2, BDNF, MYC, GUCA1A, SGSM3, ABCC1, ZNHIT2, TIMP3, TP63, H19, TGFB1, CRH, CSF1, TERC, TFAP2A, MCL1, MAPT, STOX1, ANXA5, MGAT4A, HTC2, EPCAM, CKAP4, SLC22A4, CHST3, LCN2, JAKMIP2, CIB2, SLC23A2, FGF7, STAT5A, FGF2, RPE65, MAPK3, PPARG, PTN, VDR, CELP, HOPX, DAB2, DHFR, UVRAG, RNU1-4, ABCB1, PEG3, EDNRB, CD1D, DOC2A, CASP3, ERBB2, CAT, F2R, RXRA, CASP9, AKR1C3, SLC16A3, PLAA, VASP, CXCR4, SYT1, SQSTM1, PAX8, SLC16A4, TNFRSF1A, ATG5, CUL7, EZR, CUL1, ZEB2, STAT5B, MIA, SLC5A6, HDAC3, COIL, SLC7A5, NR4A3, TP53BP2, TIMP1, TGFA, NR2F2, TERT, HSPB3, PSCA, ARHGEF5, GCM1, TIMP2, ABCB6, ANGPTL1, TTR, ATP6V0D1, CFLAR, ABO, ACTR1A, NANOG, MIR503HG, KISS1R, MCM8, PROK1, MAGT1, SPATA9, HM13, CD276, ASRGL1, LIN28A, ARFRP1, WNK1, GORASP1, ERAP2, VSIR, SELENOK, GATAD1, SUGP1, WDR48, ZNF248, RSPO3, AP5B1, LINC00261, PLAC4, H3P7, GPR1-AS, LINC00629, KRT8P3, MIR495, MIR451A, MIR196B, PIM3, MIR34A, MIR211, MIR21, MIR204, MIR199B, MIR141, LIN28B, KIF7, TRIML2, NLRP7, IMMP1L, SALL4, ACKR3, STARD7, JMJD6, DKK1, PHB2, MGAT4B, PIM2, FERMT2, STIP1, TMED2, APOBEC2, C1QL1, PGRMC1, CCL27, PPP1R13L, NES, EBP, IGF2BP1, PDPN, PITRM1, FST, CALCRL, TBC1D9, PPP1R13B, RETN, BRMS1, GKN1, HIF1AN, MEG3, NAT10, AKIRIN2, RIN2, HDL3, ZBTB7A, PARD6A, NOP53, DNMT3L, LGALS13, MCTS1, IGHV1-12, MCAT, PDLIM3, SULT1B1, PDCD4, BBC3, ATRNL1, PGR, STAT1, DNASE1, ERBB3, EPAS1, ENPEP, ENG, EDNRA, EDN2, EDN1, DNMT1, DLX4, F8, DLX3, DLD, DIO2, CYP11A1, CYP2B6, CYP1B1, CTLA4, VCAN, ERBB4, FABP3, SPP1, GH1, HLA-E, HLA-C, HIC1, HGF, GPER1, GPR1, GNRHR, GJA5, MSTN, FDX1, NR6A1, GAPDH, NR5A1, FOXC2, FGFR2, FGFR1, FGF8, FGF4, CSNK1D, CSF3, CSF2, BIRC3, ZFP36L2, BRAF, BMP2, CEACAM1, ATHS, ASCL2, AREG, XIAP, BIRC2, CCR5, AIRE, APC, ANG, ALPI, AHR, AGT, JAG1, PLIN2, TSPO, CALB1, CALCA, CALR, CCR1, CMA1, CLIC1, CHGB, CFTR, CDKN2A, CDKN1B, CDH11, CD47, CD44, CD34, CD9, CCND2, CCNB1, CAV1, CASP10, CASP8, HMMR, HMOX1, HPRT1, PAK2, RARRES1, HTRA1, PKM, PITX2, ADA, ENPP3, PDGFRB, PDGFA, PAK1, CIITA, SERPINB2, PAEP, OLR1, NME1, NFIL3, MUC1, MTX1, MSH3, RASA1, RELA, RFC2, RORA, SOX2, SLPI, SLC22A5, SLC22A3, SLC16A1, SLC3A2, SLC2A3, SRSF1, SFRP2, SET, SDHC, CXCL12, SDC1, CCL2, SATB1, S100A11, RPS6KA3, MRC1, MGAT3, HSD3B1, IFNA2, CXCL8, IL6, IL4, IL1R1, IL1B, IGF1, IFNB1, IFNA13, IFNA1, MET, IFIT3, IAPP, HTR4, HTR2A, HSPB2, HSPB1, HSPA5, HSPA4, IL11, IL13, INHA, INSL4, MDM4, MAN2A1, MARCKS, TACSTD2, CYP4F3, LRP1, LIFR, LDLR, LASP1, KRT19, KRT18, KRT8, KLRC1, KDR, JAK2, ITGB1, INSR, H3P10
  • Usog Wikipedia
    "Bata, bata, paano ka ginawa?" episode aired August 28, 2008. Pinoy culture, beliefs and practices about "paglilihi, pagbubuntis, panganganak at pag-aalaga sa bata". ^ Cohen S, Janicki-Deverts D, Miller GE (2007).
  • Positional Alcohol Nystagmus Wikipedia
    "Relationships between blood alcohol, positional alcohol nystagmus and postural equilibrium". Q J Stud Alcohol . 28 (1): 11–21. PMID 5339889 . ^ Advanced DUI Investigation: A Training and Reference Manual, Daniel J.
  • Statin-Associated Autoimmune Myopathy Wikipedia
    Current Opinion in Lipidology (Review). 28 (2): 186–92. doi : 10.1097/MOL.0000000000000399 .
  • Renal Medullary Carcinoma Wikipedia
    "Cytologic features of renal medullary carcinoma" . Cancer . 105 (1): 28–34. doi : 10.1002/cncr.20764 . PMID 15593260 . ^ a b Warren, K.
    SMARCB1, ALK, MTOR, ABL1, CCND1, MTTP, PTEN, SCT, SMARCA1, VCL, VEGFA, CD274
    • Renal Medullary Carcinoma Orphanet
      Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.
    • Renal Medullary Carcinoma Gard
      Renal medullary carcinoma is a rare kidney cancer that mostly affects young people with African ancestry. The tumor develops in the medulla of the kidney. The first sign is often blood in the urine (hematuria). Patients may also develop flank pain or feel a lump in the abdomen that is usually on the right side of the body. Having sickle cell trait is a risk factor for developing renal medullary carcinoma. Treatment options include surgery to take out part or all of the kidney (radical nephrectomy) , chemotherapy, and palliative radiation therapy .
  • Fudan Poisoning Case Wikipedia
    According to defence lawyer Xie Tonxiang, the chief justice agreed to meet the defendant's father, Lin Zunyao, on July 28 2015. Lin Zunyao and the chief justice discussed the case in the courtroom of the Supreme People's Court.
  • Mitochondrial Trifunctional Protein Deficiency Wikipedia
    Genetics Home Reference . Retrieved 2016-10-28 . ^ a b Swaiman, Kenneth F.; Ashwal, Stephen; Ferriero, Donna M.; Schor, Nina F. (2014).
    HADHA, HADHB, INHCAP, CHPT1, EHHADH, TRIM39, MTTP, MRRF, GFM2, DHDDS, SCO2, COX5A, PTEN, ACADVL, MT1B, SLC25A20, GBE1, GAA, CPT2, CPT1A, CPOX, COX8A, HADH
    • Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency Omim
      A number sign (#) is used with this entry because LCHAD deficiency is caused by homozygous or compound heterozygous mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase (HADHA; 600890). Complete mitochondrial trifunctional protein deficiency (609015) is a less common disorder that is also caused by mutation in the HADHA gene. Description Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death (IJlst et al., 1996). Clinical Features Wanders et al. (1989) described sudden infant death syndrome (SIDS) in a 3-day-old infant caused by deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase. Duran et al. (1991) reported that the younger sister of this patient began at the age of 5 months to have feeding problems, lowered consciousness, and liver dysfunction.
    • Mitochondrial Trifunctional Protein Deficiency Omim
      The infant developed respiratory failure and showed poor spontaneous motility and absence of suckling and archaic reflexes on day 8, had acute cardiac failure on day 28 related to a hypokinetic cardiomyopathy with distended wall, and died on day 30.
    • Lchad Deficiency Gard
      Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye ( retina ). Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and a loss of sensation in their arms and legs (peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death. Problems related to LCHAD deficiency can be triggered when the body is under stress, for example during periods of fasting, illnesses such as viral infections, or weather extremes.
    • Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Wikipedia
      This article has multiple issues. Please help improve it or discuss these issues on the talk page . ( Learn how and when to remove these template messages ) This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" – news · newspapers · books · scholar · JSTOR ( June 2012 ) ( Learn how and when to remove this template message ) This article includes a list of general references , but it remains largely unverified because it lacks sufficient corresponding inline citations . Please help to improve this article by introducing more precise citations. ( September 2011 ) ( Learn how and when to remove this template message ) ( Learn how and when to remove this template message ) Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Other names LCHAD deficiency Long-chain 3-hydroxyacyl-coenzyme; A dehydrogenase deficiency has an autosomal recessive pattern of inheritance. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency , is a rare autosomal recessive fatty acid oxidation disorder [1] that prevents the body from converting certain fats into energy.
    • Mitochondrial Trifunctional Protein Deficiency Orphanet
      A rare disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.. Epidemiology TFPD has been reported in less than 100 cases in the literature. Clinical description The neonatal onset, severe form manifests as hepatic steatosis, cardiomyopathy, skeletal myopathy and neuropathy and is usually fatal. A moderately severe form, with onset usually from the neonatal period to 18 months of age, presents primarily with hypoketotic hypoglycemia and metabolic acidosis which is often precipitated by prolonged fasting and/or intercurrent illness. Both forms can manifest with neuropathy with or without cardiomyopathy and can be fatal.
    • Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency Orphanet
      A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy. Epidemiology The worldwide birth prevalence is estimated at 1/250,000. However around the Baltic Sea the frequency is higher; birth prevalence is predicted to be 1/120,000 in Poland and 1/20,000 in the Pomeranian district. Clinical description Most patients display a severe phenotype that presents in infancy, usually from the neonatal period up until 12 months of age. The disease manifests as hypoketotic hypoglycemia, metabolic acidosis, hypotonia, liver involvement with hepatic encephalopathy, cardiomyopathy and arrhythmias.
    • Mitochondrial Trifunctional Protein Deficiency Medlineplus
      Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. Features that occur during infancy include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), and liver problems. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy).
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