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Copyright V. Ventruto / A. Di Luccio
Genus database
16470
methylmalonicaciduria vitamin B12-responsive I
Eponyms:
Inheritance:
adenosyl-cobalamin-cbl A synthesis
defect
cblA adenosyl-cobalamin synthesis
defect
autosomal recessive
Semeiological Metabolic disorder, isolated defect. Mental retardation, typical metabolic changes due to adenosyl-cobalamincbl A synthesis defect.
Synthesis:
Group
Sub group
Signs:
GASTROINTESTINAL DISORDERS
liver dysfunctions, liver anomalies
hepatomegaly, liver enlarged
LABORATORY DATA
biochemical markers
metabolic defect
chromosomal assignment
chromosome 4q localization
foetal-amniotic biochemical data
adenosyl-cobalamin biosynthesis (foetal)
methylmalonate (foetal)
methylmalonic acid (foetal)
gene, structural-functional anomalies
gene analysis-DNA analysis
MMAA, gene chr.4q31.1-q31.2
granulocytes, changes
granulocytes, reduction absence, neutropenia
plasma electrolytes-inorganic constituents,
modified functions
hyperammonemia
plasma nonprotein-organic constituents,
anomalies
organic acids, high levels
vitamins, disorders
plasma proteins, anomalies
tetrahydrobiopterin defect
tissue, biochemical changes
adenosyl cobalamin-cobalamin A synthesis,
defect
metabolic acidosis, ketonuria, ketosis,
ketonemia, ketoacidosis
urine, constituent changes
methylcitrate
methylglutaconicaciduria
methylmalonate
non-protein organic constituents
NEUROLOGICAL DISORDERS
basal ganglia, disorders
dystonia
mental retardation
mental retardation
performance changes, not including mental
retardation
stupor, lethargy, including coma
OTHERS
inheritance
inheritance, autosomal recessive
PRENATAL-NEONATAL MODIFIED DATA
foetal changes
foetal changes, recognized by laboratory data
prenatal diagnosis
methylmalonicaciduria vitamin B12-responsive I
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Copyright V. Ventruto / A. Di Luccio
Genus database
prenatal diagnosis, metabolic
SKELETAL DISORDERS
bones, lesions, structural changes
bone, fractures not including: fractures in utero
osteoporosis
Super group:
Super aggreg. FOETAL CHANGES
foetal changes, recognized by laboratory data
Aggregations:
METABOLIC DISORDERS
metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis
vitamin disorders
Differential
diagnosis:
Bibliography
16460 methylmalonicaciduria III
16471 methylmalonicaciduria vitamin B12responsive II
19360 oroticaciduria I
19361 oroticaciduria II
7676 Rabier disease
OMIM ID: 251100
OMIM ID: 607481
Annuario Orphanet-Italia delle Malattie Rare 2005, pag.27
Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.23012302,2007
methylmalonicaciduria vitamin B12-responsive I
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