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Summary
METHYLMALONIC ACIDURIA, cblA TYPE
METHYLMALONICACIDURIA, VITAMIN B12 RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OFADENOSYLCOBALAMIN cblA ADENOSYLCOBALAMIN DE
251100
OMIM = Online Medalian Inheritance of Men
79310
4q31.1-q31.2
  • low-protein diet
  • vitamin B12 (hydroxycobalamin)
rare autosomal recessive/several forms the clinical picture cannot be differentiated from Methyl-malonyl-CoA mutase deficiency (MMA) cblA MIM 251100 cblB MIM 251110 diagnosis: treat with 1mg of hydroxycobolamin i.m. daily and monitor methylmalonic acid excretion in urine over 5 days
symptoms
Amino acids, plasma
Amino acids, urine
anemia
coma
dehydration
early death
encephalopathy
failure to thrive
hyperammonemia
hypoglycemia
ketosis
mental retardation
metabolic acidosis
neutropenia (decreased neutrophils)
onset, infant
onset, newborn
Organic acids, plasma
Organic acids, urine
seizures
thrombopenia, thrombocytopenia
vomiting
laboratory finding
Methylmalonic acid100.005000.000.0079.00mmol/mol creatinineurine
Methylmalonic acid10.00100.00 -Ámol/lplasma
Glycine800.001400.00232.00740.00-Ámol/lplasma
Glycine1000.005000.000.00950.00mmol/mol creatinineurine
Methylcitric acid30.00500.002.0012.00mmol/mol creatinineurinenewborn
Ketone bodies ++/+++urine
pH 7.357.45decreasedblood
Ammonia 25.0080.00increasedblood
Hemoglobine8.0012.0012.0015.00g/dlblood
Glucose 3.305.50decreasedblood
Thrombocytes, Platelets 150.00400.00decreasedblood
Literature
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Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Kohlsch+€tter AGardiner RM, Goebel HHHuman forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnositic criteria, Hamburg 1992J Inherit Metab Dis160241-2441993
Becker MARoessler BJHyperuricemia and goutThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.201655-16771995
Amiel Jet al.Familial isolated vitamin E deficiency. Extensive study in a large family with a 5-year therapeutic follow-upJ Inherit Metab Dis183333-3401995
Sokol RJet al.Isolated vitamin E deficiency in the absence of fat malabsorption - familial and sporadic cases: characterization and investigation of causesJ Lab Clin Med1110548-5591988