3A92 Hereditary methaemoglobinaemia
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Hereditary methemoglobinemia (HM) is a rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, well-tolerated cyanosis from birth is the only symptom. RCM type 2, with global loss of Cb5R function, is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life.
synonyms
- Hereditary methaemoglobinaemia
- Hereditary congenital methaemoglobinaemia
- Haemoglobin-M disease
- hereditary m haemoglobinopathy
- hereditary Methemoglobinemia
- chronic familial methaemoglobin reductase deficiency
- cytochrome b5 reductase deficiency
- cytochrome b5 reductase deficiency
- Congenital NADH - [nicotinamide adenine dinucleotide] methaemoglobin reductase deficiency
- cytochrome-b reductase deficiency
- cytochrome b>5< reductase deficiency
- deficiency of NADH - [nicotinamide adenine dinucleotide] cytochrome b5 reductase
- deficiency of lipoamide reductase (NADH)
- enzymatic methaemoglobinaemia
- haemoglobin M disease
- DPNH - [diphosphopyridine nucleotide] methaemoglobin reductase deficiency
- congenital DPNH-methaemoglobin-reductase deficiency
- congenital infantile lactic acidosis due to lad deficiency
- Hb M - [haemoglobin-m disease]
- maple syrup urine disease with lactic acidosis
- NADH - [nicotinamide adenine dinucleotide] diaphorase or reductase deficiency
- maple syrup urine disease, type 3
- Recessive hereditary methaemoglobinaemia
- hereditary methaemoglobinemia due to globin chain mutation
- Hb M methaemoglobinaemia
- Recessive hereditary methaemoglobinaemia type 1
- NADH - [nicotinamide adenine dinucleotide] cytochrome b5 reductase deficiency type 1
- NADH - [nicotinamide adenine dinucleotide] diaphorase deficiency type 1
- Partial NADH - [nicotinamide adenine dinucleotide] cytochrome b5 reductase deficiency
- Partial NADH - [nicotinamide adenine dinucleotide] diaphorase deficiency
- Recessive congenital methaemoglobinaemia type 1
- Recessive hereditary methaemoglobinaemia type 2
- NADH - [nicotinamide adenine dinucleotide] cytochrome b5reductase deficiency type 2
- NADH - [nicotinamide adenine dinucleotide] diaphorase deficiency type 2
- Total NADH - [nicotinamide adenine dinucleotide] cytochrome b5 reductase deficiency
- Total NADH - [nicotinamide adenine dinucleotide] diaphorase deficiency
- Recessive congenital methaemoglobinaemia type 2
- Methaemoglobin reductase deficiency haemoglobinopathy
- NADPH - [Methaemoglobin reductase deficiency haemoglobinopathy]
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