Visit Metagene.de!
Summary
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (DLDD)
DLD DEFICIENCY E3 DEFICIENCY MSUD TYPE III
246900
OMIM = Online Medalian Inheritance of Men
2394
7q31.1
  • dichloroacetate
  • lipoic acid
very rare (<1:1000000)
autosomal recessive
mutation in the DLD gene
antiepileptic drugs (valproate and topiramate) resulted in a profile that mimicked PDH (E3) [Mampilly GT et al. 2014]
symptoms
ataxia
basal ganglia, changes, lesions, calcifications (MRI, CT)
brain, cortical or paraventricular cysts
cardiomyopathy
cardiomyopathy, hypertrophic
cortical or cerebral atrophy
developmental delay
dystonia
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
growth retardation, poor growth
hepatomegaly (large liver)
hyperammonemia
hypoglycemia
lactic acidosis
Leigh syndrome
liver failure
liver involvement or dysfunction
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
motor retardation
muscle weakness
onset, infancy
onset, neonatal
Organic acids, urine
seizures
stridor
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
Lactic acid2.508.000.703.30mmo/lblood
Pyruvic acid200.00800.0027.00160.00-Ámol/lblood
Lactate/Pyruvate ratio10.0020.0010.0028.00no unitblood
Leucine 48.00180.00increasedplasma
L-Isoleucine 23.00102.00increasedplasma
Valine 64.00320.00increasedplasma
Ammonia120.00160.0025.0080.00-Ámol/lblood
2-Oxoglutaric acid100.002000.00 mmol/mol creatinineurine
D-Glucose1.005.002.605.50mmol/lblood
2-Oxoadipic acid20.00200.00 mmol/mol creatinineurine
Lactic acid500.005000.00 mmol/mol creatinineurine
Citrulline60.00280.00 -Ámol/lplasma
Sedoheptulose-7-phosphate2.5050.00 mmol/mol creatinineurine
Literature
Bove F,Fasano AIron chelation therapy to prevent the manifestations of aceruloplasminemiaNeurology85121085-10862015
Roepke Set al.Valproic Acid and hypersensitivity syndromeAm J Psychiatry16105792004
Cheng Yet al.Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis Perinat Med316535-5372003
Tomatsu Set al.Missense models Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly of murine mucopolysaccharidosis type VII produced by targeted mutagenesisProc Natl Acad Sci U S A992314982-72002
Phang JMYeh GC, Scriver CRDisorders of proline and hyroxyproline metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101125-11461995
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Sleeper MMet al.Gene therapy ameliorates cardiovascular disease in dogs with mucopolysaccharidosis VIICirculation1107815-8202004
Gupta D,Thappa DMMongolian spots: How important are they?World J Clin Cases18230-2322013
Simonaro CMet al.Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal modelsPediatr Res570701-7072005
Shoji Yet al.3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic diseaseJ Inherit Metab Dis2201-81999
Natowicz MRet al.Rapid prenatal testing for human beta-glucuronidase deficiency (MPS VII)Genet Test73241-2432003
Miyajima HAceruloplasminemiaNeuropathology365183-902015
van der Meer JW,Simon AThe challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndromeRheumatology (Oxford)550ii23-292016
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Rosenblatt DSInherited disorders of folate transport and metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203111-31281995