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Summary
BIOTINIDASE DEFICIENCY
MULTIPLE CARBOXYLASE DEFICIENCY, LATE ONSET BIOTINIDASE DEFICIENCY
253260
OMIM = Online Medalian Inheritance of Men
79241
3p25.1
  • biotin
rare (1:60000)
autosomal recessive
preliminary studies fail to demonstrate clear genotype-phenotype correlations [Hymes J 2001]
symptoms
alopecia
ataxia
cerebral atrophy
coma
conjunctivitis
early death
eczematoid skin rush
encephalopathy
fatigue, severe or unusual
fetal akinesia/hypokinesia sequence
hair loss
hearing defect, deafness
hyperammonemia
hypertonia, spasticity
hypotonia
infantile spasms
infections (severe or recurrent)
ketosis
lactic acidosis
metabolic acidosis
motor retardation
muscle weakness
onset, adolescent
onset, child
onset, infant
onset, newborn
optic atrophy
seborrhoic skin rush
seizures
spastic diplegia/quadriplegia
speech development, delayed, abnormal
spinal cord demyelinisation
stridor
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
3-Methylcrotonylglycine5.0050.000.002.00mmol/mol creatinineurine
3-Hydroxypropionic acid20.00500.003.0010.00mmol/mol creatinineurine
Methylcitric acid10.0050.002.0012.00mmol/mol creatinineurinenewborn
3-Hydroxybutyric acid7.00882.0020.0060.00-Ámol/lspinal fluid
Lactate100.0075000.000.0025.00mmol/mol creatinineurineadult
3-Hydroxyisovaleric acid10.00300.000.0018.00-Ámol/lspinal fluid
3-Hydroxyisovaleric acid10.00166.000.0019.00-Ámol/lplasma
3-Hydroxypropionic acid0.0015.000.009.50-Ámol/lspinal fluid
Lactate1.7012.000.502.10mmol/lspinal fluid
Citrate60.00170.0090.00590.00-Ámol/lspinal fluid
2-Hydroxybutyric acid17.00394.0011.0086.00-Ámol/lspinal fluid
3-Hydroxyisovaleric acid50.00500.000.0046.00mmol/mol creatinineurine
Ammonia150.00200.0025.0080.00-Ámol/lblood
Lactate1.006.000.901.80mmol/lblood
pH7.007.407.357.45no unitblood
Ketone bodies increasedblood
Acylcarnitine0.000.00 increasedurineno data
3-Hydroxyisovalerylcarnitine (C5-OH) increasedblood
Biocytin0.000.00 increasedurineno data
Literature
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Haap Met al.Metabolic characterization of a woman homozygous for the Ser113Leu missense mutation in carnitine palmitoyl transferase IIJ Clin Endocrinol Metab8752139-21432002
Elpeleg ONet al.Antenatal presentation of carnitine palmitoyltransferase II deficiencyAm J Med Genet1022183-1872001
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
McCaddon ARegland B, Fear CFTrypsin inhibition: a potential cause of cobalamin deficiency common to the pathogenesis of Alzheimer-type dementia and AIDS dementia complex?Med Hypotheses450200-2041995
Costeff Het al.3-Methylglutaconic aciduria in optic atrophy plusAnn Neurol331103-1041993
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Miguil Met al.Fatal hepatic necrosis during treatment with sodium valproateCah Anesthesiolfrench430325-3261995
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Tint GSIrons M, Elias ER, et al.Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndromeN Engl J Med3300107-1131994
Rideau Yet al.Treatment of respiratory insufficiency in Duchennes muscular dystrophy: nasal ventilation in the initial stagesMonaldi Arch Chest Dis503235-2381995
Chace DHet al.Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of deathClin Chem4771166-11822001
Thomas GHBeaudet ALDisorders of glycoprotein degradation and structure: alpha-mannosidosis, beta-mannosidosis, fucosidosis, sialidosis, aspartylglucosminuria and carbohydrate- deficient glycoprotein syndromeThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202529-25611995
Coulter DLCarnitine deficiency in epilepsy: Risk factors and treatmentJ Child Neurol Suppl 2100S32-391995
Elpeleg Oet al.N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathyAnn Neurol526845-8492002
Caldovic Let al.Late onset N-acetylglutamate synthase deficiency caused by hypomorphic allelesHum Mutat253293-2982005
Schmidt Eet al.Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studiesBiochim Biophys Acta1740154-592005
Paulin Det al.Desminopathies in muscle diseaseJ Pathol2044418-4272004
Goldfarb LGet al.Desmin myopathyBrain1270723-7342004
Chace DHet al.Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of deathClin Chem4771166-11822001